Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Identifieur interne : 002B22 ( Istex/Corpus ); précédent : 002B21; suivant : 002B23Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain
Auteurs : Partha Sen ; Yaping Yang ; Colby Navarro ; Iris Silva ; Przemyslaw Szafranski ; Katarzyna E. Kolodziejska ; Avinash V. Dharmadhikari ; Hasnaa Mostafa ; Harry Kozakewich ; Debra Kearney ; John B. Cahill ; Merrissa Whitt ; Masha Bilic ; Linda Margraf ; Adrian Charles ; Jack Goldblatt ; Kathleen Gibson ; Patrick E. Lantz ; A. Julian Garvin ; John Petty ; Zeina Kiblawi ; Craig Zuppan ; Allyn Mcconkie-Rosell ; Marie T. Mcdonald ; Stacey L. Peterson-Carmichael ; Jane T. Gaede ; Binoy Shivanna ; Deborah Schady ; Philippe S. Friedlich ; Stephen R. Hays ; Irene Valenzuela Palafoll ; Ulrike Siebers-Renelt ; Axel Bohring ; Laura S. Finn ; Joseph R. Siebert ; Csaba Galambos ; Lananh Nguyen ; Melissa Riley ; Nicolas Chassaing ; Adeline Vigouroux ; Gustavo Rocha ; Susana Fernandes ; Jane Brumbaugh ; Kari Roberts ; Luk Ho-Ming ; Ivan F. M. Lo ; Stephen Lam ; Romana Gerychova ; Marta Jezova ; Iveta Valaskova ; Florence Fellmann ; Katayoun Afshar ; Eric Giannoni ; Vincent Muhlethaler ; Jinlong Liang ; Jacques S. Beckmann ; Janet Lioy ; Hitesh Deshmukh ; Lakshmi Srinivasan ; Daniel T. Swarr ; Melissa Sloman ; Charles Shaw-Smith ; Rosa Laura Van Loon ; Cecilia Hagman ; Yves Sznajer ; Catherine Barrea ; Christine Galant ; Thierry Detaille ; Jennifer A. Wambach ; F. Sessions Cole ; Aaron Hamvas ; Lawrence S. Prince ; Karin E. M. Diderich ; Alice S. Brooks ; Robert M. Verdijk ; Hari Ravindranathan ; Ella Sugo ; David Mowat ; Michael L. Baker ; Claire Langston ; Stephen Welty ; Pawel StankiewiczSource :
- Human Mutation [ 1059-7794 ] ; 2013-06.
English descriptors
- KwdEn :
- Activation domain, Alveolar capillary dysplasia, Amino, Amino acids, Atresia, Autopsy, Baylor college, Biopsy, Carlsson, Caucasian, Clinical information, Cliniques universitaires universite catholique, Codon, Czech republic, Deleterious, Deleteriousc, Deletion, Dobutamine, Dopamine, Dysplasia, Epinephrine, Epoprostenol, Exon, Familial cases, Forkhead, Forkhead family, Foxf1, Frameshift, Genet, Genetics, Genitourinary systems, Human lungs, Human mutation, Hypertension, Inframe deletion, Intestine, Kalinichenko, Langston, Mahlapuu, Malrotation, Masaryk university, Medical genetics, Milrinone, Misalignment, Missense, Missense mutations, Mutation, Nitric, Nitric oxide, Norepinephrine nitric oxide, Oxide, Pediatr, Pediatrics, Physiol lung cell, Pulmonary hypertension, Pulmonary veins, Reading frame, Second exon, Stankiewicz, Szafranski, Transcription, Transcription factor, Western australia.
- Teeft :
- Activation domain, Alveolar capillary dysplasia, Amino, Amino acids, Atresia, Autopsy, Baylor college, Biopsy, Carlsson, Caucasian, Clinical information, Cliniques universitaires universite catholique, Codon, Czech republic, Deleterious, Deleteriousc, Deletion, Dobutamine, Dopamine, Dysplasia, Epinephrine, Epoprostenol, Exon, Familial cases, Forkhead, Forkhead family, Foxf1, Frameshift, Genet, Genetics, Genitourinary systems, Human lungs, Human mutation, Hypertension, Inframe deletion, Intestine, Kalinichenko, Langston, Mahlapuu, Malrotation, Masaryk university, Medical genetics, Milrinone, Misalignment, Missense, Missense mutations, Mutation, Nitric, Nitric oxide, Norepinephrine nitric oxide, Oxide, Pediatr, Pediatrics, Physiol lung cell, Pulmonary hypertension, Pulmonary veins, Reading frame, Second exon, Stankiewicz, Szafranski, Transcription, Transcription factor, Western australia.
Abstract
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA‐binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.
Url:
DOI: 10.1002/humu.22313
Links to Exploration step
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<author><name sortKey="Sen, Partha" sort="Sen, Partha" uniqKey="Sen P" first="Partha" last="Sen">Partha Sen</name>
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<author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name>
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<author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name>
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<author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
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<author><name sortKey="Kolodziejska, Katarzyna E" sort="Kolodziejska, Katarzyna E" uniqKey="Kolodziejska K" first="Katarzyna E." last="Kolodziejska">Katarzyna E. Kolodziejska</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
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<author><name sortKey="Dharmadhikari, Avinash V" sort="Dharmadhikari, Avinash V" uniqKey="Dharmadhikari A" first="Avinash V." last="Dharmadhikari">Avinash V. Dharmadhikari</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
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<author><name sortKey="Mostafa, Hasnaa" sort="Mostafa, Hasnaa" uniqKey="Mostafa H" first="Hasnaa" last="Mostafa">Hasnaa Mostafa</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
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<author><name sortKey="Kozakewich, Harry" sort="Kozakewich, Harry" uniqKey="Kozakewich H" first="Harry" last="Kozakewich">Harry Kozakewich</name>
<affiliation><mods:affiliation>Department of Pathology, Children's Hospital Boston, Massachusetts, Boston</mods:affiliation>
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<author><name sortKey="Kearney, Debra" sort="Kearney, Debra" uniqKey="Kearney D" first="Debra" last="Kearney">Debra Kearney</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
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<author><name sortKey="Cahill, John B" sort="Cahill, John B" uniqKey="Cahill J" first="John B." last="Cahill">John B. Cahill</name>
<affiliation><mods:affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
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<author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name>
<affiliation><mods:affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
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<author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" first="Masha" last="Bilic">Masha Bilic</name>
<affiliation><mods:affiliation>Department of Pathology and Lab Medicine, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Margraf, Linda" sort="Margraf, Linda" uniqKey="Margraf L" first="Linda" last="Margraf">Linda Margraf</name>
<affiliation><mods:affiliation>Department of Pathology, University of Texas Southwestern Medical School, Texas, Dallas</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name>
<affiliation><mods:affiliation>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name>
<affiliation><mods:affiliation>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lantz, Patrick E" sort="Lantz, Patrick E" uniqKey="Lantz P" first="Patrick E." last="Lantz">Patrick E. Lantz</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Garvin, A Julian" sort="Garvin, A Julian" uniqKey="Garvin A" first="A. Julian" last="Garvin">A. Julian Garvin</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name>
<affiliation><mods:affiliation>Department of General Surgery, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name>
<affiliation><mods:affiliation>Division of Neonatology, Harbor‐UCLA Medical Center, California, Torrance</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name>
<affiliation><mods:affiliation>Pediatric Pathology Division, Loma Linda University Medical Center, California, Loma Linda</mods:affiliation>
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</author>
<author><name sortKey="Mcconkie Osell, Allyn" sort="Mcconkie Osell, Allyn" uniqKey="Mcconkie Osell A" first="Allyn" last="Mcconkie-Rosell">Allyn Mcconkie-Rosell</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mcdonald, Marie T" sort="Mcdonald, Marie T" uniqKey="Mcdonald M" first="Marie T." last="Mcdonald">Marie T. Mcdonald</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Peterson Armichael, Stacey L" sort="Peterson Armichael, Stacey L" uniqKey="Peterson Armichael S" first="Stacey L." last="Peterson-Carmichael">Stacey L. Peterson-Carmichael</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gaede, Jane T" sort="Gaede, Jane T" uniqKey="Gaede J" first="Jane T." last="Gaede">Jane T. Gaede</name>
<affiliation><mods:affiliation>Department of Pathology, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Friedlich, Philippe S" sort="Friedlich, Philippe S" uniqKey="Friedlich P" first="Philippe S." last="Friedlich">Philippe S. Friedlich</name>
<affiliation><mods:affiliation>USC Division of Neonatal Medicine, Keck School of Medicine, California, Los Angeles</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hays, Stephen R" sort="Hays, Stephen R" uniqKey="Hays S" first="Stephen R." last="Hays">Stephen R. Hays</name>
<affiliation><mods:affiliation>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Tennessee, Nashville</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Palafoll, Irene Valenzuela" sort="Palafoll, Irene Valenzuela" uniqKey="Palafoll I" first="Irene Valenzuela" last="Palafoll">Irene Valenzuela Palafoll</name>
<affiliation><mods:affiliation>Unitat de Genètica Clínica, Hospital Vall d'Hebrón, Barcelona, Spain</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Siebers Enelt, Ulrike" sort="Siebers Enelt, Ulrike" uniqKey="Siebers Enelt U" first="Ulrike" last="Siebers-Renelt">Ulrike Siebers-Renelt</name>
<affiliation><mods:affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name>
<affiliation><mods:affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Finn, Laura S" sort="Finn, Laura S" uniqKey="Finn L" first="Laura S." last="Finn">Laura S. Finn</name>
<affiliation><mods:affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Siebert, Joseph R" sort="Siebert, Joseph R" uniqKey="Siebert J" first="Joseph R." last="Siebert">Joseph R. Siebert</name>
<affiliation><mods:affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name>
<affiliation><mods:affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name>
<affiliation><mods:affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name>
<affiliation><mods:affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name>
<affiliation><mods:affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name>
<affiliation><mods:affiliation>Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name>
<affiliation><mods:affiliation>Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ho Ing, Luk" sort="Ho Ing, Luk" uniqKey="Ho Ing L" first="Luk" last="Ho-Ming">Luk Ho-Ming</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lo, Ivan F M" sort="Lo, Ivan F M" uniqKey="Lo I" first="Ivan F. M." last="Lo">Ivan F. M. Lo</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name>
<affiliation><mods:affiliation>Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name>
<affiliation><mods:affiliation>Department of Pathology, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name>
<affiliation><mods:affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name>
<affiliation><mods:affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name>
<affiliation><mods:affiliation>BGI‐Shenzhen, Shenzhen, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Beckmann, Jacques S" sort="Beckmann, Jacques S" uniqKey="Beckmann J" first="Jacques S." last="Beckmann">Jacques S. Beckmann</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Swarr, Daniel T" sort="Swarr, Daniel T" uniqKey="Swarr D" first="Daniel T." last="Swarr">Daniel T. Swarr</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name>
<affiliation><mods:affiliation>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shaw Mith, Charles" sort="Shaw Mith, Charles" uniqKey="Shaw Mith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Loon, Rosa Laura" sort="Van Loon, Rosa Laura" uniqKey="Van Loon R" first="Rosa Laura" last="Van Loon">Rosa Laura Van Loon</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name>
<affiliation><mods:affiliation>Department of Neonatology, Skane University Hospital, Lund, Sweden</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation><mods:affiliation>Center for Human Genetics, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name>
<affiliation><mods:affiliation>Pediatrics Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name>
<affiliation><mods:affiliation>Pathology Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name>
<affiliation><mods:affiliation>Pediatric Intensive Care Unit, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wambach, Jennifer A" sort="Wambach, Jennifer A" uniqKey="Wambach J" first="Jennifer A." last="Wambach">Jennifer A. Wambach</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cole, F Sessions" sort="Cole, F Sessions" uniqKey="Cole F" first="F. Sessions" last="Cole">F. Sessions Cole</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Prince, Lawrence S" sort="Prince, Lawrence S" uniqKey="Prince L" first="Lawrence S." last="Prince">Lawrence S. Prince</name>
<affiliation><mods:affiliation>Division of Neonatology, Vanderbilt University School of Medicine, Tennessee, Nashville</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Diderich, Karin E M" sort="Diderich, Karin E M" uniqKey="Diderich K" first="Karin E. M." last="Diderich">Karin E. M. Diderich</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brooks, Alice S" sort="Brooks, Alice S" uniqKey="Brooks A" first="Alice S." last="Brooks">Alice S. Brooks</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Verdijk, Robert M" sort="Verdijk, Robert M" uniqKey="Verdijk R" first="Robert M." last="Verdijk">Robert M. Verdijk</name>
<affiliation><mods:affiliation>Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name>
<affiliation><mods:affiliation>Children's Intensive Care, Sydney Children's Hospital, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name>
<affiliation><mods:affiliation>Department of Anatomical Pathology, Sydney Children's Hospital, Sydney, NSW, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Anatomical Pathology, SEALS, Prince of Wales Hospital, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>School of Women's and Children's health, The University of NSW, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Baker, Michael L" sort="Baker, Michael L" uniqKey="Baker M" first="Michael L." last="Baker">Michael L. Baker</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
</titleStmt>
<publicationStmt><idno type="wicri:source">ISTEX</idno>
<idno type="RBID">ISTEX:E58CBEBF6D6AB64F5BDEFAB3D2FBE025D539A672</idno>
<date when="2013" year="2013">2013</date>
<idno type="doi">10.1002/humu.22313</idno>
<idno type="url">https://api.istex.fr/document/E58CBEBF6D6AB64F5BDEFAB3D2FBE025D539A672/fulltext/pdf</idno>
<idno type="wicri:Area/Istex/Corpus">002B22</idno>
<idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">002B22</idno>
</publicationStmt>
<sourceDesc><biblStruct><analytic><title level="a" type="main">Novel <hi rend="italic">FOXF1</hi>
Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its <hi rend="fc">DNA</hi>
Binding Domain</title>
<author><name sortKey="Sen, Partha" sort="Sen, Partha" uniqKey="Sen P" first="Partha" last="Sen">Partha Sen</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>E-mail: psen@bcm.edu</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Yang, Yaping" sort="Yang, Yaping" uniqKey="Yang Y" first="Yaping" last="Yang">Yaping Yang</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Navarro, Colby" sort="Navarro, Colby" uniqKey="Navarro C" first="Colby" last="Navarro">Colby Navarro</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Silva, Iris" sort="Silva, Iris" uniqKey="Silva I" first="Iris" last="Silva">Iris Silva</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Szafranski, Przemyslaw" sort="Szafranski, Przemyslaw" uniqKey="Szafranski P" first="Przemyslaw" last="Szafranski">Przemyslaw Szafranski</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kolodziejska, Katarzyna E" sort="Kolodziejska, Katarzyna E" uniqKey="Kolodziejska K" first="Katarzyna E." last="Kolodziejska">Katarzyna E. Kolodziejska</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Dharmadhikari, Avinash V" sort="Dharmadhikari, Avinash V" uniqKey="Dharmadhikari A" first="Avinash V." last="Dharmadhikari">Avinash V. Dharmadhikari</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mostafa, Hasnaa" sort="Mostafa, Hasnaa" uniqKey="Mostafa H" first="Hasnaa" last="Mostafa">Hasnaa Mostafa</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kozakewich, Harry" sort="Kozakewich, Harry" uniqKey="Kozakewich H" first="Harry" last="Kozakewich">Harry Kozakewich</name>
<affiliation><mods:affiliation>Department of Pathology, Children's Hospital Boston, Massachusetts, Boston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kearney, Debra" sort="Kearney, Debra" uniqKey="Kearney D" first="Debra" last="Kearney">Debra Kearney</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cahill, John B" sort="Cahill, John B" uniqKey="Cahill J" first="John B." last="Cahill">John B. Cahill</name>
<affiliation><mods:affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Whitt, Merrissa" sort="Whitt, Merrissa" uniqKey="Whitt M" first="Merrissa" last="Whitt">Merrissa Whitt</name>
<affiliation><mods:affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bilic, Masha" sort="Bilic, Masha" uniqKey="Bilic M" first="Masha" last="Bilic">Masha Bilic</name>
<affiliation><mods:affiliation>Department of Pathology and Lab Medicine, Medical University of South Carolina, South Carolina, Charleston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Margraf, Linda" sort="Margraf, Linda" uniqKey="Margraf L" first="Linda" last="Margraf">Linda Margraf</name>
<affiliation><mods:affiliation>Department of Pathology, University of Texas Southwestern Medical School, Texas, Dallas</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Charles, Adrian" sort="Charles, Adrian" uniqKey="Charles A" first="Adrian" last="Charles">Adrian Charles</name>
<affiliation><mods:affiliation>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Goldblatt, Jack" sort="Goldblatt, Jack" uniqKey="Goldblatt J" first="Jack" last="Goldblatt">Jack Goldblatt</name>
<affiliation><mods:affiliation>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gibson, Kathleen" sort="Gibson, Kathleen" uniqKey="Gibson K" first="Kathleen" last="Gibson">Kathleen Gibson</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lantz, Patrick E" sort="Lantz, Patrick E" uniqKey="Lantz P" first="Patrick E." last="Lantz">Patrick E. Lantz</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Garvin, A Julian" sort="Garvin, A Julian" uniqKey="Garvin A" first="A. Julian" last="Garvin">A. Julian Garvin</name>
<affiliation><mods:affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Petty, John" sort="Petty, John" uniqKey="Petty J" first="John" last="Petty">John Petty</name>
<affiliation><mods:affiliation>Department of General Surgery, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Kiblawi, Zeina" sort="Kiblawi, Zeina" uniqKey="Kiblawi Z" first="Zeina" last="Kiblawi">Zeina Kiblawi</name>
<affiliation><mods:affiliation>Division of Neonatology, Harbor‐UCLA Medical Center, California, Torrance</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Zuppan, Craig" sort="Zuppan, Craig" uniqKey="Zuppan C" first="Craig" last="Zuppan">Craig Zuppan</name>
<affiliation><mods:affiliation>Pediatric Pathology Division, Loma Linda University Medical Center, California, Loma Linda</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mcconkie Osell, Allyn" sort="Mcconkie Osell, Allyn" uniqKey="Mcconkie Osell A" first="Allyn" last="Mcconkie-Rosell">Allyn Mcconkie-Rosell</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mcdonald, Marie T" sort="Mcdonald, Marie T" uniqKey="Mcdonald M" first="Marie T." last="Mcdonald">Marie T. Mcdonald</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Peterson Armichael, Stacey L" sort="Peterson Armichael, Stacey L" uniqKey="Peterson Armichael S" first="Stacey L." last="Peterson-Carmichael">Stacey L. Peterson-Carmichael</name>
<affiliation><mods:affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gaede, Jane T" sort="Gaede, Jane T" uniqKey="Gaede J" first="Jane T." last="Gaede">Jane T. Gaede</name>
<affiliation><mods:affiliation>Department of Pathology, Duke University Medical Center, North Carolina, Durham</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shivanna, Binoy" sort="Shivanna, Binoy" uniqKey="Shivanna B" first="Binoy" last="Shivanna">Binoy Shivanna</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Schady, Deborah" sort="Schady, Deborah" uniqKey="Schady D" first="Deborah" last="Schady">Deborah Schady</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Friedlich, Philippe S" sort="Friedlich, Philippe S" uniqKey="Friedlich P" first="Philippe S." last="Friedlich">Philippe S. Friedlich</name>
<affiliation><mods:affiliation>USC Division of Neonatal Medicine, Keck School of Medicine, California, Los Angeles</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hays, Stephen R" sort="Hays, Stephen R" uniqKey="Hays S" first="Stephen R." last="Hays">Stephen R. Hays</name>
<affiliation><mods:affiliation>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Tennessee, Nashville</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Palafoll, Irene Valenzuela" sort="Palafoll, Irene Valenzuela" uniqKey="Palafoll I" first="Irene Valenzuela" last="Palafoll">Irene Valenzuela Palafoll</name>
<affiliation><mods:affiliation>Unitat de Genètica Clínica, Hospital Vall d'Hebrón, Barcelona, Spain</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Siebers Enelt, Ulrike" sort="Siebers Enelt, Ulrike" uniqKey="Siebers Enelt U" first="Ulrike" last="Siebers-Renelt">Ulrike Siebers-Renelt</name>
<affiliation><mods:affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Bohring, Axel" sort="Bohring, Axel" uniqKey="Bohring A" first="Axel" last="Bohring">Axel Bohring</name>
<affiliation><mods:affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Finn, Laura S" sort="Finn, Laura S" uniqKey="Finn L" first="Laura S." last="Finn">Laura S. Finn</name>
<affiliation><mods:affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Siebert, Joseph R" sort="Siebert, Joseph R" uniqKey="Siebert J" first="Joseph R." last="Siebert">Joseph R. Siebert</name>
<affiliation><mods:affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Galambos, Csaba" sort="Galambos, Csaba" uniqKey="Galambos C" first="Csaba" last="Galambos">Csaba Galambos</name>
<affiliation><mods:affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Nguyen, Lananh" sort="Nguyen, Lananh" uniqKey="Nguyen L" first="Lananh" last="Nguyen">Lananh Nguyen</name>
<affiliation><mods:affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Riley, Melissa" sort="Riley, Melissa" uniqKey="Riley M" first="Melissa" last="Riley">Melissa Riley</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Pittsburgh, Pennsylvania, Pittsburgh</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Chassaing, Nicolas" sort="Chassaing, Nicolas" uniqKey="Chassaing N" first="Nicolas" last="Chassaing">Nicolas Chassaing</name>
<affiliation><mods:affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Vigouroux, Adeline" sort="Vigouroux, Adeline" uniqKey="Vigouroux A" first="Adeline" last="Vigouroux">Adeline Vigouroux</name>
<affiliation><mods:affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Rocha, Gustavo" sort="Rocha, Gustavo" uniqKey="Rocha G" first="Gustavo" last="Rocha">Gustavo Rocha</name>
<affiliation><mods:affiliation>Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Fernandes, Susana" sort="Fernandes, Susana" uniqKey="Fernandes S" first="Susana" last="Fernandes">Susana Fernandes</name>
<affiliation><mods:affiliation>Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brumbaugh, Jane" sort="Brumbaugh, Jane" uniqKey="Brumbaugh J" first="Jane" last="Brumbaugh">Jane Brumbaugh</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Roberts, Kari" sort="Roberts, Kari" uniqKey="Roberts K" first="Kari" last="Roberts">Kari Roberts</name>
<affiliation><mods:affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ho Ing, Luk" sort="Ho Ing, Luk" uniqKey="Ho Ing L" first="Luk" last="Ho-Ming">Luk Ho-Ming</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lo, Ivan F M" sort="Lo, Ivan F M" uniqKey="Lo I" first="Ivan F. M." last="Lo">Ivan F. M. Lo</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lam, Stephen" sort="Lam, Stephen" uniqKey="Lam S" first="Stephen" last="Lam">Stephen Lam</name>
<affiliation><mods:affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Gerychova, Romana" sort="Gerychova, Romana" uniqKey="Gerychova R" first="Romana" last="Gerychova">Romana Gerychova</name>
<affiliation><mods:affiliation>Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Jezova, Marta" sort="Jezova, Marta" uniqKey="Jezova M" first="Marta" last="Jezova">Marta Jezova</name>
<affiliation><mods:affiliation>Department of Pathology, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Valaskova, Iveta" sort="Valaskova, Iveta" uniqKey="Valaskova I" first="Iveta" last="Valaskova">Iveta Valaskova</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Masaryk University, Brno, Czech Republic</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Fellmann, Florence" sort="Fellmann, Florence" uniqKey="Fellmann F" first="Florence" last="Fellmann">Florence Fellmann</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Afshar, Katayoun" sort="Afshar, Katayoun" uniqKey="Afshar K" first="Katayoun" last="Afshar">Katayoun Afshar</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Giannoni, Eric" sort="Giannoni, Eric" uniqKey="Giannoni E" first="Eric" last="Giannoni">Eric Giannoni</name>
<affiliation><mods:affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Muhlethaler, Vincent" sort="Muhlethaler, Vincent" uniqKey="Muhlethaler V" first="Vincent" last="Muhlethaler">Vincent Muhlethaler</name>
<affiliation><mods:affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Liang, Jinlong" sort="Liang, Jinlong" uniqKey="Liang J" first="Jinlong" last="Liang">Jinlong Liang</name>
<affiliation><mods:affiliation>BGI‐Shenzhen, Shenzhen, China</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Beckmann, Jacques S" sort="Beckmann, Jacques S" uniqKey="Beckmann J" first="Jacques S." last="Beckmann">Jacques S. Beckmann</name>
<affiliation><mods:affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Lioy, Janet" sort="Lioy, Janet" uniqKey="Lioy J" first="Janet" last="Lioy">Janet Lioy</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Deshmukh, Hitesh" sort="Deshmukh, Hitesh" uniqKey="Deshmukh H" first="Hitesh" last="Deshmukh">Hitesh Deshmukh</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Srinivasan, Lakshmi" sort="Srinivasan, Lakshmi" uniqKey="Srinivasan L" first="Lakshmi" last="Srinivasan">Lakshmi Srinivasan</name>
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</affiliation>
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<author><name sortKey="Swarr, Daniel T" sort="Swarr, Daniel T" uniqKey="Swarr D" first="Daniel T." last="Swarr">Daniel T. Swarr</name>
<affiliation><mods:affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sloman, Melissa" sort="Sloman, Melissa" uniqKey="Sloman M" first="Melissa" last="Sloman">Melissa Sloman</name>
<affiliation><mods:affiliation>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Shaw Mith, Charles" sort="Shaw Mith, Charles" uniqKey="Shaw Mith C" first="Charles" last="Shaw-Smith">Charles Shaw-Smith</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Van Loon, Rosa Laura" sort="Van Loon, Rosa Laura" uniqKey="Van Loon R" first="Rosa Laura" last="Van Loon">Rosa Laura Van Loon</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hagman, Cecilia" sort="Hagman, Cecilia" uniqKey="Hagman C" first="Cecilia" last="Hagman">Cecilia Hagman</name>
<affiliation><mods:affiliation>Department of Neonatology, Skane University Hospital, Lund, Sweden</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sznajer, Yves" sort="Sznajer, Yves" uniqKey="Sznajer Y" first="Yves" last="Sznajer">Yves Sznajer</name>
<affiliation><mods:affiliation>Center for Human Genetics, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Barrea, Catherine" sort="Barrea, Catherine" uniqKey="Barrea C" first="Catherine" last="Barrea">Catherine Barrea</name>
<affiliation><mods:affiliation>Pediatrics Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Galant, Christine" sort="Galant, Christine" uniqKey="Galant C" first="Christine" last="Galant">Christine Galant</name>
<affiliation><mods:affiliation>Pathology Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Detaille, Thierry" sort="Detaille, Thierry" uniqKey="Detaille T" first="Thierry" last="Detaille">Thierry Detaille</name>
<affiliation><mods:affiliation>Pediatric Intensive Care Unit, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Wambach, Jennifer A" sort="Wambach, Jennifer A" uniqKey="Wambach J" first="Jennifer A." last="Wambach">Jennifer A. Wambach</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Cole, F Sessions" sort="Cole, F Sessions" uniqKey="Cole F" first="F. Sessions" last="Cole">F. Sessions Cole</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Hamvas, Aaron" sort="Hamvas, Aaron" uniqKey="Hamvas A" first="Aaron" last="Hamvas">Aaron Hamvas</name>
<affiliation><mods:affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Prince, Lawrence S" sort="Prince, Lawrence S" uniqKey="Prince L" first="Lawrence S." last="Prince">Lawrence S. Prince</name>
<affiliation><mods:affiliation>Division of Neonatology, Vanderbilt University School of Medicine, Tennessee, Nashville</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Diderich, Karin E M" sort="Diderich, Karin E M" uniqKey="Diderich K" first="Karin E. M." last="Diderich">Karin E. M. Diderich</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Brooks, Alice S" sort="Brooks, Alice S" uniqKey="Brooks A" first="Alice S." last="Brooks">Alice S. Brooks</name>
<affiliation><mods:affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Verdijk, Robert M" sort="Verdijk, Robert M" uniqKey="Verdijk R" first="Robert M." last="Verdijk">Robert M. Verdijk</name>
<affiliation><mods:affiliation>Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Ravindranathan, Hari" sort="Ravindranathan, Hari" uniqKey="Ravindranathan H" first="Hari" last="Ravindranathan">Hari Ravindranathan</name>
<affiliation><mods:affiliation>Children's Intensive Care, Sydney Children's Hospital, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Sugo, Ella" sort="Sugo, Ella" uniqKey="Sugo E" first="Ella" last="Sugo">Ella Sugo</name>
<affiliation><mods:affiliation>Department of Anatomical Pathology, Sydney Children's Hospital, Sydney, NSW, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>Anatomical Pathology, SEALS, Prince of Wales Hospital, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation><mods:affiliation>Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia</mods:affiliation>
</affiliation>
<affiliation><mods:affiliation>School of Women's and Children's health, The University of NSW, NSW, Sydney, Australia</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Baker, Michael L" sort="Baker, Michael L" uniqKey="Baker M" first="Michael L." last="Baker">Michael L. Baker</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Langston, Claire" sort="Langston, Claire" uniqKey="Langston C" first="Claire" last="Langston">Claire Langston</name>
<affiliation><mods:affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Welty, Stephen" sort="Welty, Stephen" uniqKey="Welty S" first="Stephen" last="Welty">Stephen Welty</name>
<affiliation><mods:affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
<author><name sortKey="Stankiewicz, Pawel" sort="Stankiewicz, Pawel" uniqKey="Stankiewicz P" first="Pawel" last="Stankiewicz">Pawel Stankiewicz</name>
<affiliation><mods:affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</mods:affiliation>
</affiliation>
</author>
</analytic>
<monogr></monogr>
<series><title level="j" type="main">Human Mutation</title>
<title level="j" type="alt">HUMAN MUTATION</title>
<idno type="ISSN">1059-7794</idno>
<idno type="eISSN">1098-1004</idno>
<imprint><biblScope unit="vol">34</biblScope>
<biblScope unit="issue">6</biblScope>
<biblScope unit="page" from="801">801</biblScope>
<biblScope unit="page" to="811">811</biblScope>
<biblScope unit="page-count">11</biblScope>
<date type="published" when="2013-06">2013-06</date>
</imprint>
<idno type="ISSN">1059-7794</idno>
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<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Activation domain</term>
<term>Alveolar capillary dysplasia</term>
<term>Amino</term>
<term>Amino acids</term>
<term>Atresia</term>
<term>Autopsy</term>
<term>Baylor college</term>
<term>Biopsy</term>
<term>Carlsson</term>
<term>Caucasian</term>
<term>Clinical information</term>
<term>Cliniques universitaires universite catholique</term>
<term>Codon</term>
<term>Czech republic</term>
<term>Deleterious</term>
<term>Deleteriousc</term>
<term>Deletion</term>
<term>Dobutamine</term>
<term>Dopamine</term>
<term>Dysplasia</term>
<term>Epinephrine</term>
<term>Epoprostenol</term>
<term>Exon</term>
<term>Familial cases</term>
<term>Forkhead</term>
<term>Forkhead family</term>
<term>Foxf1</term>
<term>Frameshift</term>
<term>Genet</term>
<term>Genetics</term>
<term>Genitourinary systems</term>
<term>Human lungs</term>
<term>Human mutation</term>
<term>Hypertension</term>
<term>Inframe deletion</term>
<term>Intestine</term>
<term>Kalinichenko</term>
<term>Langston</term>
<term>Mahlapuu</term>
<term>Malrotation</term>
<term>Masaryk university</term>
<term>Medical genetics</term>
<term>Milrinone</term>
<term>Misalignment</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Mutation</term>
<term>Nitric</term>
<term>Nitric oxide</term>
<term>Norepinephrine nitric oxide</term>
<term>Oxide</term>
<term>Pediatr</term>
<term>Pediatrics</term>
<term>Physiol lung cell</term>
<term>Pulmonary hypertension</term>
<term>Pulmonary veins</term>
<term>Reading frame</term>
<term>Second exon</term>
<term>Stankiewicz</term>
<term>Szafranski</term>
<term>Transcription</term>
<term>Transcription factor</term>
<term>Western australia</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Activation domain</term>
<term>Alveolar capillary dysplasia</term>
<term>Amino</term>
<term>Amino acids</term>
<term>Atresia</term>
<term>Autopsy</term>
<term>Baylor college</term>
<term>Biopsy</term>
<term>Carlsson</term>
<term>Caucasian</term>
<term>Clinical information</term>
<term>Cliniques universitaires universite catholique</term>
<term>Codon</term>
<term>Czech republic</term>
<term>Deleterious</term>
<term>Deleteriousc</term>
<term>Deletion</term>
<term>Dobutamine</term>
<term>Dopamine</term>
<term>Dysplasia</term>
<term>Epinephrine</term>
<term>Epoprostenol</term>
<term>Exon</term>
<term>Familial cases</term>
<term>Forkhead</term>
<term>Forkhead family</term>
<term>Foxf1</term>
<term>Frameshift</term>
<term>Genet</term>
<term>Genetics</term>
<term>Genitourinary systems</term>
<term>Human lungs</term>
<term>Human mutation</term>
<term>Hypertension</term>
<term>Inframe deletion</term>
<term>Intestine</term>
<term>Kalinichenko</term>
<term>Langston</term>
<term>Mahlapuu</term>
<term>Malrotation</term>
<term>Masaryk university</term>
<term>Medical genetics</term>
<term>Milrinone</term>
<term>Misalignment</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Mutation</term>
<term>Nitric</term>
<term>Nitric oxide</term>
<term>Norepinephrine nitric oxide</term>
<term>Oxide</term>
<term>Pediatr</term>
<term>Pediatrics</term>
<term>Physiol lung cell</term>
<term>Pulmonary hypertension</term>
<term>Pulmonary veins</term>
<term>Reading frame</term>
<term>Second exon</term>
<term>Stankiewicz</term>
<term>Szafranski</term>
<term>Transcription</term>
<term>Transcription factor</term>
<term>Western australia</term>
</keywords>
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<front><div type="abstract">Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA‐binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.</div>
</front>
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<author><json:item><name>Partha Sen</name>
<affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</json:string>
<json:string>E-mail: psen@bcm.edu</json:string>
</affiliations>
</json:item>
<json:item><name>Yaping Yang</name>
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</affiliations>
</json:item>
<json:item><name>Colby Navarro</name>
<affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Iris Silva</name>
<affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Przemyslaw Szafranski</name>
<affiliations><json:string>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Katarzyna E. Kolodziejska</name>
<affiliations><json:string>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Avinash V. Dharmadhikari</name>
<affiliations><json:string>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Hasnaa Mostafa</name>
<affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Harry Kozakewich</name>
<affiliations><json:string>Department of Pathology, Children's Hospital Boston, Massachusetts, Boston</json:string>
</affiliations>
</json:item>
<json:item><name>Debra Kearney</name>
<affiliations><json:string>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>John B. Cahill</name>
<affiliations><json:string>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</json:string>
</affiliations>
</json:item>
<json:item><name>Merrissa Whitt</name>
<affiliations><json:string>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</json:string>
</affiliations>
</json:item>
<json:item><name>Masha Bilic</name>
<affiliations><json:string>Department of Pathology and Lab Medicine, Medical University of South Carolina, South Carolina, Charleston</json:string>
</affiliations>
</json:item>
<json:item><name>Linda Margraf</name>
<affiliations><json:string>Department of Pathology, University of Texas Southwestern Medical School, Texas, Dallas</json:string>
</affiliations>
</json:item>
<json:item><name>Adrian Charles</name>
<affiliations><json:string>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</json:string>
</affiliations>
</json:item>
<json:item><name>Jack Goldblatt</name>
<affiliations><json:string>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</json:string>
</affiliations>
</json:item>
<json:item><name>Kathleen Gibson</name>
<affiliations><json:string>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</json:string>
</affiliations>
</json:item>
<json:item><name>Patrick E. Lantz</name>
<affiliations><json:string>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</json:string>
</affiliations>
</json:item>
<json:item><name>A. Julian Garvin</name>
<affiliations><json:string>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</json:string>
</affiliations>
</json:item>
<json:item><name>John Petty</name>
<affiliations><json:string>Department of General Surgery, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</json:string>
</affiliations>
</json:item>
<json:item><name>Zeina Kiblawi</name>
<affiliations><json:string>Division of Neonatology, Harbor‐UCLA Medical Center, California, Torrance</json:string>
</affiliations>
</json:item>
<json:item><name>Craig Zuppan</name>
<affiliations><json:string>Pediatric Pathology Division, Loma Linda University Medical Center, California, Loma Linda</json:string>
</affiliations>
</json:item>
<json:item><name>Allyn McConkie‐Rosell</name>
<affiliations><json:string>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</json:string>
</affiliations>
</json:item>
<json:item><name>Marie T. McDonald</name>
<affiliations><json:string>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</json:string>
</affiliations>
</json:item>
<json:item><name>Stacey L. Peterson‐Carmichael</name>
<affiliations><json:string>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</json:string>
</affiliations>
</json:item>
<json:item><name>Jane T. Gaede</name>
<affiliations><json:string>Department of Pathology, Duke University Medical Center, North Carolina, Durham</json:string>
</affiliations>
</json:item>
<json:item><name>Binoy Shivanna</name>
<affiliations><json:string>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Deborah Schady</name>
<affiliations><json:string>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</json:string>
</affiliations>
</json:item>
<json:item><name>Philippe S. Friedlich</name>
<affiliations><json:string>USC Division of Neonatal Medicine, Keck School of Medicine, California, Los Angeles</json:string>
</affiliations>
</json:item>
<json:item><name>Stephen R. Hays</name>
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</affiliations>
</json:item>
<json:item><name>Irene Valenzuela Palafoll</name>
<affiliations><json:string>Unitat de Genètica Clínica, Hospital Vall d'Hebrón, Barcelona, Spain</json:string>
</affiliations>
</json:item>
<json:item><name>Ulrike Siebers‐Renelt</name>
<affiliations><json:string>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</json:string>
</affiliations>
</json:item>
<json:item><name>Axel Bohring</name>
<affiliations><json:string>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</json:string>
</affiliations>
</json:item>
<json:item><name>Laura S. Finn</name>
<affiliations><json:string>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</json:string>
</affiliations>
</json:item>
<json:item><name>Joseph R. Siebert</name>
<affiliations><json:string>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</json:string>
</affiliations>
</json:item>
<json:item><name>Csaba Galambos</name>
<affiliations><json:string>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</json:string>
</affiliations>
</json:item>
<json:item><name>Lananh Nguyen</name>
<affiliations><json:string>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</json:string>
</affiliations>
</json:item>
<json:item><name>Melissa Riley</name>
<affiliations><json:string>Department of Pediatrics, University of Pittsburgh, Pennsylvania, Pittsburgh</json:string>
</affiliations>
</json:item>
<json:item><name>Nicolas Chassaing</name>
<affiliations><json:string>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</json:string>
</affiliations>
</json:item>
<json:item><name>Adeline Vigouroux</name>
<affiliations><json:string>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</json:string>
</affiliations>
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<json:item><name>Gustavo Rocha</name>
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Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its <hi rend="fc">DNA</hi>
Binding Domain</title>
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<publisher>Wiley Publishing Ltd</publisher>
<availability><licence>© 2013 Wiley Periodicals, Inc.</licence>
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<date type="published" when="2013-06"></date>
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<sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Novel <hi rend="italic">FOXF1</hi>
Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its <hi rend="fc">DNA</hi>
Binding Domain</title>
<author xml:id="author-0000" role="corresp"><persName><forename type="first">Partha</forename>
<surname>Sen</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
<affiliation>Correspondence to: Partha Sen, Department of Pediatrics‐Neonatology, 790 Feigin Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030. E‐mail: psen@bcm.edu</affiliation>
</author>
<author xml:id="author-0001"><persName><forename type="first">Yaping</forename>
<surname>Yang</surname>
</persName>
<affiliation><orgName>Department of Molecular & Human Genetics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0002"><persName><forename type="first">Colby</forename>
<surname>Navarro</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0003"><persName><forename type="first">Iris</forename>
<surname>Silva</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0004"><persName><forename type="first">Przemyslaw</forename>
<surname>Szafranski</surname>
</persName>
<affiliation><orgName>Department of Molecular & Human Genetics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0005"><persName><forename type="first">Katarzyna E.</forename>
<surname>Kolodziejska</surname>
</persName>
<affiliation><orgName>Department of Molecular & Human Genetics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0006"><persName><forename type="first">Avinash V.</forename>
<surname>Dharmadhikari</surname>
</persName>
<affiliation><orgName>Department of Molecular & Human Genetics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0007"><persName><forename type="first">Hasnaa</forename>
<surname>Mostafa</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0008"><persName><forename type="first">Harry</forename>
<surname>Kozakewich</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Children's Hospital Boston</orgName>
<address><settlement type="city">Boston</settlement>
<region>Massachusetts</region>
</address>
</affiliation>
</author>
<author xml:id="author-0009"><persName><forename type="first">Debra</forename>
<surname>Kearney</surname>
</persName>
<affiliation><orgName>Department of Pathology & Immunology</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0010"><persName><forename type="first">John B.</forename>
<surname>Cahill</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Medical University of South Carolina</orgName>
<address><settlement type="city">Charleston</settlement>
<region>South Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0011"><persName><forename type="first">Merrissa</forename>
<surname>Whitt</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Medical University of South Carolina</orgName>
<address><settlement type="city">Charleston</settlement>
<region>South Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0012"><persName><forename type="first">Masha</forename>
<surname>Bilic</surname>
</persName>
<affiliation><orgName>Department of Pathology and Lab Medicine</orgName>
<orgName>Medical University of South Carolina</orgName>
<address><settlement type="city">Charleston</settlement>
<region>South Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0013"><persName><forename type="first">Linda</forename>
<surname>Margraf</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>University of Texas Southwestern Medical School</orgName>
<address><settlement type="city">Dallas</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0014"><persName><forename type="first">Adrian</forename>
<surname>Charles</surname>
</persName>
<affiliation><orgName>Department of Paediatric Pathology</orgName>
<orgName>University of Western Australia, Princess Margaret Hospital for Children</orgName>
<address><settlement type="city">Western Australia</settlement>
<country key="AU">Australia</country>
</address>
</affiliation>
</author>
<author xml:id="author-0015"><persName><forename type="first">Jack</forename>
<surname>Goldblatt</surname>
</persName>
<affiliation><orgName>Genetic Services of WA</orgName>
<orgName>School of Paediatrics and Child Health, University of Western Australia</orgName>
<address><settlement type="city">Western Australia</settlement>
<country key="AU">Australia</country>
</address>
</affiliation>
</author>
<author xml:id="author-0016"><persName><forename type="first">Kathleen</forename>
<surname>Gibson</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><settlement type="city">Winston‐Salem</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0017"><persName><forename type="first">Patrick E.</forename>
<surname>Lantz</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><settlement type="city">Winston‐Salem</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0018"><persName><forename type="first">A. Julian</forename>
<surname>Garvin</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><settlement type="city">Winston‐Salem</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0019"><persName><forename type="first">John</forename>
<surname>Petty</surname>
</persName>
<affiliation><orgName>Department of General Surgery</orgName>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><settlement type="city">Winston‐Salem</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0020"><persName><forename type="first">Zeina</forename>
<surname>Kiblawi</surname>
</persName>
<affiliation><orgName>Division of Neonatology</orgName>
<orgName>Harbor‐UCLA Medical Center</orgName>
<address><settlement type="city">Torrance</settlement>
<region>California</region>
</address>
</affiliation>
</author>
<author xml:id="author-0021"><persName><forename type="first">Craig</forename>
<surname>Zuppan</surname>
</persName>
<affiliation><orgName>Pediatric Pathology Division</orgName>
<orgName>Loma Linda University Medical Center</orgName>
<address><settlement type="city">Loma Linda</settlement>
<region>California</region>
</address>
</affiliation>
</author>
<author xml:id="author-0022"><persName><forename type="first">Allyn</forename>
<surname>McConkie‐Rosell</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Duke University Medical Center</orgName>
<address><settlement type="city">Durham</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0023"><persName><forename type="first">Marie T.</forename>
<surname>McDonald</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Duke University Medical Center</orgName>
<address><settlement type="city">Durham</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0024"><persName><forename type="first">Stacey L.</forename>
<surname>Peterson‐Carmichael</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Duke University Medical Center</orgName>
<address><settlement type="city">Durham</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0025"><persName><forename type="first">Jane T.</forename>
<surname>Gaede</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Duke University Medical Center</orgName>
<address><settlement type="city">Durham</settlement>
<region>North Carolina</region>
</address>
</affiliation>
</author>
<author xml:id="author-0026"><persName><forename type="first">Binoy</forename>
<surname>Shivanna</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0027"><persName><forename type="first">Deborah</forename>
<surname>Schady</surname>
</persName>
<affiliation><orgName>Department of Pathology & Immunology</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
</affiliation>
</author>
<author xml:id="author-0028"><persName><forename type="first">Philippe S.</forename>
<surname>Friedlich</surname>
</persName>
<affiliation><orgName>USC Division of Neonatal Medicine</orgName>
<orgName>Keck School of Medicine</orgName>
<address><settlement type="city">Los Angeles</settlement>
<region>California</region>
</address>
</affiliation>
</author>
<author xml:id="author-0029"><persName><forename type="first">Stephen R.</forename>
<surname>Hays</surname>
</persName>
<affiliation><orgName>Anesthesiology and Pediatrics</orgName>
<orgName>Vanderbilt University School of Medicine</orgName>
<address><settlement type="city">Nashville</settlement>
<region>Tennessee</region>
</address>
</affiliation>
</author>
<author xml:id="author-0030"><persName><forename type="first">Irene Valenzuela</forename>
<surname>Palafoll</surname>
</persName>
<affiliation><orgName>Unitat de Genètica Clínica</orgName>
<orgName>Hospital Vall d'Hebrón</orgName>
<address><settlement type="city">Barcelona</settlement>
<country key="ES">Spain</country>
</address>
</affiliation>
</author>
<author xml:id="author-0031"><persName><forename type="first">Ulrike</forename>
<surname>Siebers‐Renelt</surname>
</persName>
<affiliation><orgName>Institut für Humangenetik</orgName>
<orgName>Westfälische Wilhelms‐Universität</orgName>
<address><settlement type="city">Münster</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
</author>
<author xml:id="author-0032"><persName><forename type="first">Axel</forename>
<surname>Bohring</surname>
</persName>
<affiliation><orgName>Institut für Humangenetik</orgName>
<orgName>Westfälische Wilhelms‐Universität</orgName>
<address><settlement type="city">Münster</settlement>
<country key="DE">Germany</country>
</address>
</affiliation>
</author>
<author xml:id="author-0033"><persName><forename type="first">Laura S.</forename>
<surname>Finn</surname>
</persName>
<affiliation><orgName>Department of Laboratories</orgName>
<orgName>Seattle Children's Hospital and Department of Pathology, University of Washington</orgName>
<address><settlement type="city">Seattle</settlement>
<region>Washington</region>
</address>
</affiliation>
</author>
<author xml:id="author-0034"><persName><forename type="first">Joseph R.</forename>
<surname>Siebert</surname>
</persName>
<affiliation><orgName>Department of Laboratories</orgName>
<orgName>Seattle Children's Hospital and Department of Pathology, University of Washington</orgName>
<address><settlement type="city">Seattle</settlement>
<region>Washington</region>
</address>
</affiliation>
</author>
<author xml:id="author-0035"><persName><forename type="first">Csaba</forename>
<surname>Galambos</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>University of Pittsburgh</orgName>
<address><settlement type="city">Pittsburgh</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0036"><persName><forename type="first">Lananh</forename>
<surname>Nguyen</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>University of Pittsburgh</orgName>
<address><settlement type="city">Pittsburgh</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0037"><persName><forename type="first">Melissa</forename>
<surname>Riley</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>University of Pittsburgh</orgName>
<address><settlement type="city">Pittsburgh</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0038"><persName><forename type="first">Nicolas</forename>
<surname>Chassaing</surname>
</persName>
<affiliation><orgName>Department of Medical Genetics</orgName>
<orgName>CHU Toulouse</orgName>
<orgName>Purpan Hospital</orgName>
<address><settlement type="city">Toulouse</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0039"><persName><forename type="first">Adeline</forename>
<surname>Vigouroux</surname>
</persName>
<affiliation><orgName>Department of Medical Genetics</orgName>
<orgName>CHU Toulouse</orgName>
<orgName>Purpan Hospital</orgName>
<address><settlement type="city">Toulouse</settlement>
<country key="FR">France</country>
</address>
</affiliation>
</author>
<author xml:id="author-0040"><persName><forename type="first">Gustavo</forename>
<surname>Rocha</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Hospital de Sao Joao</orgName>
<address><settlement type="city">Porto</settlement>
<country key="PT">Portugal</country>
</address>
</affiliation>
</author>
<author xml:id="author-0041"><persName><forename type="first">Susana</forename>
<surname>Fernandes</surname>
</persName>
<affiliation><orgName>Department of Genetics</orgName>
<orgName>Faculty of Medicine</orgName>
<orgName>Porto University</orgName>
<address><settlement type="city">Porto</settlement>
<country key="PT">Portugal</country>
</address>
</affiliation>
</author>
<author xml:id="author-0042"><persName><forename type="first">Jane</forename>
<surname>Brumbaugh</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>University of Minnesota</orgName>
<address><settlement type="city">Minneapolis</settlement>
<region>Minnesota</region>
</address>
</affiliation>
</author>
<author xml:id="author-0043"><persName><forename type="first">Kari</forename>
<surname>Roberts</surname>
</persName>
<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>University of Minnesota</orgName>
<address><settlement type="city">Minneapolis</settlement>
<region>Minnesota</region>
</address>
</affiliation>
</author>
<author xml:id="author-0044"><persName><forename type="first">Luk</forename>
<surname>Ho‐ming</surname>
</persName>
<affiliation><orgName>Clinical Genetic Service</orgName>
<orgName>Department of Health</orgName>
<address><settlement type="city">Hong Kong SAR</settlement>
<country key="CN">China</country>
</address>
</affiliation>
</author>
<author xml:id="author-0045"><persName><forename type="first">Ivan F. M.</forename>
<surname>Lo</surname>
</persName>
<affiliation><orgName>Clinical Genetic Service</orgName>
<orgName>Department of Health</orgName>
<address><settlement type="city">Hong Kong SAR</settlement>
<country key="CN">China</country>
</address>
</affiliation>
</author>
<author xml:id="author-0046"><persName><forename type="first">Stephen</forename>
<surname>Lam</surname>
</persName>
<affiliation><orgName>Clinical Genetic Service</orgName>
<orgName>Department of Health</orgName>
<address><settlement type="city">Hong Kong SAR</settlement>
<country key="CN">China</country>
</address>
</affiliation>
</author>
<author xml:id="author-0047"><persName><forename type="first">Romana</forename>
<surname>Gerychova</surname>
</persName>
<affiliation><orgName>Department of Obstetrics and Gynecology</orgName>
<orgName>Masaryk University</orgName>
<address><settlement type="city">Brno</settlement>
<country key="CZ">Czech Republic</country>
</address>
</affiliation>
</author>
<author xml:id="author-0048"><persName><forename type="first">Marta</forename>
<surname>Jezova</surname>
</persName>
<affiliation><orgName>Department of Pathology</orgName>
<orgName>Masaryk University</orgName>
<address><settlement type="city">Brno</settlement>
<country key="CZ">Czech Republic</country>
</address>
</affiliation>
</author>
<author xml:id="author-0049"><persName><forename type="first">Iveta</forename>
<surname>Valaskova</surname>
</persName>
<affiliation><orgName>Department of Medical Genetics</orgName>
<orgName>Masaryk University</orgName>
<address><settlement type="city">Brno</settlement>
<country key="CZ">Czech Republic</country>
</address>
</affiliation>
</author>
<author xml:id="author-0050"><persName><forename type="first">Florence</forename>
<surname>Fellmann</surname>
</persName>
<affiliation><orgName>Service of Medical Genetics</orgName>
<orgName>Division of Neonatology, Centre Hospitalier Universitaire Vaudois</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0051"><persName><forename type="first">Katayoun</forename>
<surname>Afshar</surname>
</persName>
<affiliation><orgName>Service of Medical Genetics</orgName>
<orgName>Division of Neonatology, Centre Hospitalier Universitaire Vaudois</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0052"><persName><forename type="first">Eric</forename>
<surname>Giannoni</surname>
</persName>
<affiliation><orgName>Neonatology Service</orgName>
<orgName>Lausanne University Hospital</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0053"><persName><forename type="first">Vincent</forename>
<surname>Muhlethaler</surname>
</persName>
<affiliation><orgName>Neonatology Service</orgName>
<orgName>Lausanne University Hospital</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0054"><persName><forename type="first">Jinlong</forename>
<surname>Liang</surname>
</persName>
<affiliation><orgName>BGI‐Shenzhen</orgName>
<address><settlement type="city">Shenzhen</settlement>
<country key="CN">China</country>
</address>
</affiliation>
</author>
<author xml:id="author-0055"><persName><forename type="first">Jacques S.</forename>
<surname>Beckmann</surname>
</persName>
<affiliation><orgName>Service of Medical Genetics</orgName>
<orgName>Division of Neonatology, Centre Hospitalier Universitaire Vaudois</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
<affiliation><orgName>Department of Medical Genetics</orgName>
<orgName>University of Lausanne</orgName>
<address><settlement type="city">Lausanne</settlement>
<country key="CH">Switzerland</country>
</address>
</affiliation>
</author>
<author xml:id="author-0056"><persName><forename type="first">Janet</forename>
<surname>Lioy</surname>
</persName>
<affiliation><orgName>Division of Neonatology</orgName>
<orgName>Children's Hospital of Philadelphia</orgName>
<address><settlement type="city">Philadelphia</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0057"><persName><forename type="first">Hitesh</forename>
<surname>Deshmukh</surname>
</persName>
<affiliation><orgName>Division of Neonatology</orgName>
<orgName>Children's Hospital of Philadelphia</orgName>
<address><settlement type="city">Philadelphia</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0058"><persName><forename type="first">Lakshmi</forename>
<surname>Srinivasan</surname>
</persName>
<affiliation><orgName>Division of Neonatology</orgName>
<orgName>Children's Hospital of Philadelphia</orgName>
<address><settlement type="city">Philadelphia</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
<author xml:id="author-0059"><persName><forename type="first">Daniel T.</forename>
<surname>Swarr</surname>
</persName>
<affiliation><orgName>Division of Neonatology</orgName>
<orgName>Children's Hospital of Philadelphia</orgName>
<address><settlement type="city">Philadelphia</settlement>
<region>Pennsylvania</region>
</address>
</affiliation>
</author>
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<country key="BE">Belgium</country>
</address>
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<country key="BE">Belgium</country>
</address>
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<affiliation><orgName>Pathology Department</orgName>
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<address><settlement type="city">Brussels</settlement>
<country key="BE">Belgium</country>
</address>
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<author xml:id="author-0067"><persName><forename type="first">Thierry</forename>
<surname>Detaille</surname>
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<orgName>Cliniques Universitaires St‐Luc, Université Catholique de Louvain</orgName>
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<country key="BE">Belgium</country>
</address>
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<author xml:id="author-0068"><persName><forename type="first">Jennifer A.</forename>
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<affiliation><orgName>Edward Mallinckrodt Department of Pediatrics</orgName>
<orgName>Washington University School of Medicine</orgName>
<address><settlement type="city">St. Louis</settlement>
<region>Missouri</region>
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<author xml:id="author-0069"><persName><forename type="first">F. Sessions</forename>
<surname>Cole</surname>
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<affiliation><orgName>Edward Mallinckrodt Department of Pediatrics</orgName>
<orgName>Washington University School of Medicine</orgName>
<address><settlement type="city">St. Louis</settlement>
<region>Missouri</region>
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<affiliation><orgName>Edward Mallinckrodt Department of Pediatrics</orgName>
<orgName>Washington University School of Medicine</orgName>
<address><settlement type="city">St. Louis</settlement>
<region>Missouri</region>
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<author xml:id="author-0071"><persName><forename type="first">Lawrence S.</forename>
<surname>Prince</surname>
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<address><settlement type="city">Nashville</settlement>
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</author>
<author xml:id="author-0072"><persName><forename type="first">Karin E.M.</forename>
<surname>Diderich</surname>
</persName>
<affiliation><orgName>Department of Clinical Genetics</orgName>
<orgName>Erasmus Medical Center</orgName>
<address><region>Rotterdam</region>
<country key="NL">The Netherlands</country>
</address>
</affiliation>
</author>
<author xml:id="author-0073"><persName><forename type="first">Alice S.</forename>
<surname>Brooks</surname>
</persName>
<affiliation><orgName>Department of Clinical Genetics</orgName>
<orgName>Erasmus Medical Center</orgName>
<address><region>Rotterdam</region>
<country key="NL">The Netherlands</country>
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<author xml:id="author-0074"><persName><forename type="first">Robert M.</forename>
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<affiliation><orgName>Department of Pathology</orgName>
<orgName>Erasmus Medical Center</orgName>
<address><region>Rotterdam</region>
<country key="NL">The Netherlands</country>
</address>
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<region>NSW</region>
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</author>
<author xml:id="author-0076"><persName><forename type="first">Ella</forename>
<surname>Sugo</surname>
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<affiliation><orgName>Department of Anatomical Pathology</orgName>
<orgName>Sydney Children's Hospital</orgName>
<address><settlement type="city">Sydney</settlement>
<region>NSW</region>
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<author xml:id="author-0077"><persName><forename type="first">David</forename>
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<affiliation><orgName>Department of Medical Genetics</orgName>
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<address><settlement type="city">Sydney</settlement>
<region>NSW</region>
<country key="AU">Australia</country>
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<orgName>The University of NSW</orgName>
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<region>NSW</region>
<country key="AU">Australia</country>
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<author xml:id="author-0078"><persName><forename type="first">Michael L.</forename>
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<affiliation><orgName>Department of Pathology & Immunology</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
</address>
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<author xml:id="author-0079"><persName><forename type="first">Claire</forename>
<surname>Langston</surname>
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<affiliation><orgName>Department of Pathology & Immunology</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
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<author xml:id="author-0080"><persName><forename type="first">Stephen</forename>
<surname>Welty</surname>
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<affiliation><orgName>Department of Pediatrics</orgName>
<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
<region>Texas</region>
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<author xml:id="author-0081"><persName><forename type="first">Pawel</forename>
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<orgName>Baylor College of Medicine</orgName>
<address><settlement type="city">Houston</settlement>
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<profileDesc><abstract style="main"><head>ABSTRACT</head>
<p>Alveolar capillary dysplasia with misalignment of pulmonary veins (<hi rend="fc">ACD</hi>
/<hi rend="fc">MPV</hi>
) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with <hi rend="fc">ACD</hi>
/<hi rend="fc">MPV</hi>
. We have collected <hi rend="fc">DNA</hi>
and pathological samples from more than 90 infants with <hi rend="fc">ACD</hi>
/<hi rend="fc">MPV</hi>
and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of <hi rend="italic">FOXF1</hi>
(nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known <hi rend="fi">FOXF1</hi>
mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative <hi rend="fc">DNA</hi>
‐binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to <hi rend="fi">FOXF1</hi>
. These results corroborate and extend our previous observations and further establish involvement of <hi rend="fi">FOXF1</hi>
in <hi rend="fc">ACD</hi>
/<hi rend="fc">MPV</hi>
and lung organogenesis.</p>
</abstract>
<abstract xml:lang="en" style="graphical" xml:id="humu22313-abs-0001"><p><hi rend="italic">FOXF1</hi>
mutations result in Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins, a deadly neonatal lung disorder that is uniformly fatal. The data in the article is the outcome of a global collaboration presenting the up to date list of causative mutations in <hi rend="italic">FOXF1</hi>
. The maternally inherited familial cases support the paternal imprinting of the gene in human lungs.
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<textClass><keywords><term xml:id="humu22313-kwd-0001">lung</term>
<term xml:id="humu22313-kwd-0002">development</term>
<term xml:id="humu22313-kwd-0003">angiogenesis</term>
<term xml:id="humu22313-kwd-0004"><hi rend="fc">ACD</hi>
/<hi rend="fc">MPV</hi>
</term>
<term xml:id="humu22313-kwd-0005"><hi rend="fi">FOXF1</hi>
</term>
<term xml:id="humu22313-kwd-0006">imprinting</term>
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<titleGroup><title type="main" sort="HUMAN MUTATION">Human Mutation</title>
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<publicationMeta level="part" position="06106"><doi>10.1002/humu.2013.34.issue-6</doi>
<copyright ownership="publisher">Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company</copyright>
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<coverDate startDate="2013-06">June 2013</coverDate>
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<titleGroup><title type="articleCategory">Mutation Update</title>
<title type="tocHeading1">Mutation Updates</title>
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<copyright ownership="publisher">© 2013 Wiley Periodicals, Inc.</copyright>
<eventGroup><event type="manuscriptReceived" date="2012-11-27"></event>
<event type="manuscriptAccepted" date="2013-02-22"></event>
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<correspondenceTo>Correspondence to: Partha Sen, Department of Pediatrics‐Neonatology, 790 Feigin Center, Baylor College of Medicine, 1102 Bates Street, Houston, TX 77030. E‐mail: <email>psen@bcm.edu</email>
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<contentMeta><titleGroup><title type="main">Novel <i>FOXF1</i>
Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its <fc>DNA</fc>
Binding Domain</title>
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</creator>
<creator xml:id="humu22313-cr-0038" creatorRole="author" affiliationRef="#humu22313-aff-0022"><personName><givenNames>Melissa</givenNames>
<familyName>Riley</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0039" creatorRole="author" affiliationRef="#humu22313-aff-0023"><personName><givenNames>Nicolas</givenNames>
<familyName>Chassaing</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0040" creatorRole="author" affiliationRef="#humu22313-aff-0023"><personName><givenNames>Adeline</givenNames>
<familyName>Vigouroux</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0041" creatorRole="author" affiliationRef="#humu22313-aff-0024"><personName><givenNames>Gustavo</givenNames>
<familyName>Rocha</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0042" creatorRole="author" affiliationRef="#humu22313-aff-0025"><personName><givenNames>Susana</givenNames>
<familyName>Fernandes</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0043" creatorRole="author" affiliationRef="#humu22313-aff-0026"><personName><givenNames>Jane</givenNames>
<familyName>Brumbaugh</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0044" creatorRole="author" affiliationRef="#humu22313-aff-0026"><personName><givenNames>Kari</givenNames>
<familyName>Roberts</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0045" creatorRole="author" affiliationRef="#humu22313-aff-0027"><personName><givenNames>Luk</givenNames>
<familyName>Ho‐ming</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0046" creatorRole="author" affiliationRef="#humu22313-aff-0027"><personName><givenNames>Ivan F. M.</givenNames>
<familyName>Lo</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0047" creatorRole="author" affiliationRef="#humu22313-aff-0027"><personName><givenNames>Stephen</givenNames>
<familyName>Lam</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0048" creatorRole="author" affiliationRef="#humu22313-aff-0028"><personName><givenNames>Romana</givenNames>
<familyName>Gerychova</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0049" creatorRole="author" affiliationRef="#humu22313-aff-0029"><personName><givenNames>Marta</givenNames>
<familyName>Jezova</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0050" creatorRole="author" affiliationRef="#humu22313-aff-0030"><personName><givenNames>Iveta</givenNames>
<familyName>Valaskova</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0051" creatorRole="author" affiliationRef="#humu22313-aff-0031"><personName><givenNames>Florence</givenNames>
<familyName>Fellmann</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0052" creatorRole="author" affiliationRef="#humu22313-aff-0031"><personName><givenNames>Katayoun</givenNames>
<familyName>Afshar</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0053" creatorRole="author" affiliationRef="#humu22313-aff-0032"><personName><givenNames>Eric</givenNames>
<familyName>Giannoni</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0054" creatorRole="author" affiliationRef="#humu22313-aff-0032"><personName><givenNames>Vincent</givenNames>
<familyName>Muhlethaler</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0055" creatorRole="author" affiliationRef="#humu22313-aff-0033"><personName><givenNames>Jinlong</givenNames>
<familyName>Liang</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0056" creatorRole="author" affiliationRef="#humu22313-aff-0031 #humu22313-aff-0034"><personName><givenNames>Jacques S.</givenNames>
<familyName>Beckmann</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0057" creatorRole="author" affiliationRef="#humu22313-aff-0035"><personName><givenNames>Janet</givenNames>
<familyName>Lioy</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0058" creatorRole="author" affiliationRef="#humu22313-aff-0035"><personName><givenNames>Hitesh</givenNames>
<familyName>Deshmukh</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0059" creatorRole="author" affiliationRef="#humu22313-aff-0035"><personName><givenNames>Lakshmi</givenNames>
<familyName>Srinivasan</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0060" creatorRole="author" affiliationRef="#humu22313-aff-0035"><personName><givenNames>Daniel T.</givenNames>
<familyName>Swarr</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0061" creatorRole="author" affiliationRef="#humu22313-aff-0036"><personName><givenNames>Melissa</givenNames>
<familyName>Sloman</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0062" creatorRole="author" affiliationRef="#humu22313-aff-0037"><personName><givenNames>Charles</givenNames>
<familyName>Shaw‐Smith</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0063" creatorRole="author" affiliationRef="#humu22313-aff-0038"><personName><givenNames>Rosa Laura</givenNames>
<familyNamePrefix>van</familyNamePrefix>
<familyName>Loon</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0064" creatorRole="author" affiliationRef="#humu22313-aff-0039"><personName><givenNames>Cecilia</givenNames>
<familyName>Hagman</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0065" creatorRole="author" affiliationRef="#humu22313-aff-0040"><personName><givenNames>Yves</givenNames>
<familyName>Sznajer</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0066" creatorRole="author" affiliationRef="#humu22313-aff-0041"><personName><givenNames>Catherine</givenNames>
<familyName>Barrea</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0067" creatorRole="author" affiliationRef="#humu22313-aff-0042"><personName><givenNames>Christine</givenNames>
<familyName>Galant</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0068" creatorRole="author" affiliationRef="#humu22313-aff-0043"><personName><givenNames>Thierry</givenNames>
<familyName>Detaille</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0069" creatorRole="author" affiliationRef="#humu22313-aff-0044"><personName><givenNames>Jennifer A.</givenNames>
<familyName>Wambach</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0070" creatorRole="author" affiliationRef="#humu22313-aff-0044"><personName><givenNames>F. Sessions</givenNames>
<familyName>Cole</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0071" creatorRole="author" affiliationRef="#humu22313-aff-0044"><personName><givenNames>Aaron</givenNames>
<familyName>Hamvas</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0072" creatorRole="author" affiliationRef="#humu22313-aff-0045"><personName><givenNames>Lawrence S.</givenNames>
<familyName>Prince</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0073" creatorRole="author" affiliationRef="#humu22313-aff-0038"><personName><givenNames>Karin E.M.</givenNames>
<familyName>Diderich</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0074" creatorRole="author" affiliationRef="#humu22313-aff-0038"><personName><givenNames>Alice S.</givenNames>
<familyName>Brooks</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0075" creatorRole="author" affiliationRef="#humu22313-aff-0046"><personName><givenNames>Robert M.</givenNames>
<familyName>Verdijk</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0076" creatorRole="author" affiliationRef="#humu22313-aff-0047"><personName><givenNames>Hari</givenNames>
<familyName>Ravindranathan</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0077" creatorRole="author" affiliationRef="#humu22313-aff-0048 #humu22313-aff-0050"><personName><givenNames>Ella</givenNames>
<familyName>Sugo</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0078" creatorRole="author" affiliationRef="#humu22313-aff-0049 #humu22313-aff-0051"><personName><givenNames>David</givenNames>
<familyName>Mowat</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0079" creatorRole="author" affiliationRef="#humu22313-aff-0004"><personName><givenNames>Michael L.</givenNames>
<familyName>Baker</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0080" creatorRole="author" affiliationRef="#humu22313-aff-0004"><personName><givenNames>Claire</givenNames>
<familyName>Langston</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0081" creatorRole="author" affiliationRef="#humu22313-aff-0001"><personName><givenNames>Stephen</givenNames>
<familyName>Welty</familyName>
</personName>
</creator>
<creator xml:id="humu22313-cr-0082" creatorRole="author" affiliationRef="#humu22313-aff-0002"><personName><givenNames>Pawel</givenNames>
<familyName>Stankiewicz</familyName>
</personName>
</creator>
</creators>
<affiliationGroup><affiliation xml:id="humu22313-aff-0001"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>Baylor College of Medicine</orgName>
<address><city>Houston</city>
<countryPart>Texas</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0002"><orgDiv>Department of Molecular & Human Genetics</orgDiv>
<orgName>Baylor College of Medicine</orgName>
<address><city>Houston</city>
<countryPart>Texas</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0003"><orgDiv>Department of Pathology</orgDiv>
<orgName>Children's Hospital Boston</orgName>
<address><city>Boston</city>
<countryPart>Massachusetts</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0004"><orgDiv>Department of Pathology & Immunology</orgDiv>
<orgName>Baylor College of Medicine</orgName>
<address><city>Houston</city>
<countryPart>Texas</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0005"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>Medical University of South Carolina</orgName>
<address><city>Charleston</city>
<countryPart>South Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0006"><orgDiv>Department of Pathology and Lab Medicine</orgDiv>
<orgName>Medical University of South Carolina</orgName>
<address><city>Charleston</city>
<countryPart>South Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0007"><orgDiv>Department of Pathology</orgDiv>
<orgName>University of Texas Southwestern Medical School</orgName>
<address><city>Dallas</city>
<countryPart>Texas</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0008" countryCode="AU"><orgDiv>Department of Paediatric Pathology</orgDiv>
<orgName>University of Western Australia, Princess Margaret Hospital for Children</orgName>
<address><city>Western Australia</city>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0009" countryCode="AU"><orgDiv>Genetic Services of WA</orgDiv>
<orgName>School of Paediatrics and Child Health, University of Western Australia</orgName>
<address><city>Western Australia</city>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0010"><orgDiv>Department of Pathology</orgDiv>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><city>Winston‐Salem</city>
<countryPart>North Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0011"><orgDiv>Department of General Surgery</orgDiv>
<orgName>Wake Forest University, Baptist Medical Center</orgName>
<address><city>Winston‐Salem</city>
<countryPart>North Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0012"><orgDiv>Division of Neonatology</orgDiv>
<orgName>Harbor‐UCLA Medical Center</orgName>
<address><city>Torrance</city>
<countryPart>California</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0013"><orgDiv>Pediatric Pathology Division</orgDiv>
<orgName>Loma Linda University Medical Center</orgName>
<address><city>Loma Linda</city>
<countryPart>California</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0014"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>Duke University Medical Center</orgName>
<address><city>Durham</city>
<countryPart>North Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0015"><orgDiv>Department of Pathology</orgDiv>
<orgName>Duke University Medical Center</orgName>
<address><city>Durham</city>
<countryPart>North Carolina</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0016"><orgDiv>USC Division of Neonatal Medicine</orgDiv>
<orgName>Keck School of Medicine</orgName>
<address><city>Los Angeles</city>
<countryPart>California</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0017"><orgDiv>Anesthesiology and Pediatrics</orgDiv>
<orgName>Vanderbilt University School of Medicine</orgName>
<address><city>Nashville</city>
<countryPart>Tennessee</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0018" countryCode="ES"><orgDiv>Unitat de Genètica Clínica</orgDiv>
<orgName>Hospital Vall d'Hebrón</orgName>
<address><city>Barcelona</city>
<country>Spain</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0019" countryCode="DE"><orgDiv>Institut für Humangenetik</orgDiv>
<orgName>Westfälische Wilhelms‐Universität</orgName>
<address><city>Münster</city>
<country>Germany</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0020"><orgDiv>Department of Laboratories</orgDiv>
<orgName>Seattle Children's Hospital and Department of Pathology, University of Washington</orgName>
<address><city>Seattle</city>
<countryPart>Washington</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0021"><orgDiv>Department of Pathology</orgDiv>
<orgName>University of Pittsburgh</orgName>
<address><city>Pittsburgh</city>
<countryPart>Pennsylvania</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0022"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>University of Pittsburgh</orgName>
<address><city>Pittsburgh</city>
<countryPart>Pennsylvania</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0023" countryCode="FR"><orgDiv>Department of Medical Genetics</orgDiv>
<orgDiv>CHU Toulouse</orgDiv>
<orgName>Purpan Hospital</orgName>
<address><city>Toulouse</city>
<country>France</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0024" countryCode="PT"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>Hospital de Sao Joao</orgName>
<address><city>Porto</city>
<country>Portugal</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0025" countryCode="PT"><orgDiv>Department of Genetics</orgDiv>
<orgDiv>Faculty of Medicine</orgDiv>
<orgName>Porto University</orgName>
<address><city>Porto</city>
<country>Portugal</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0026"><orgDiv>Department of Pediatrics</orgDiv>
<orgName>University of Minnesota</orgName>
<address><city>Minneapolis</city>
<countryPart>Minnesota</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0027" countryCode="CN"><orgDiv>Clinical Genetic Service</orgDiv>
<orgName>Department of Health</orgName>
<address><city>Hong Kong SAR</city>
<country>China</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0028" countryCode="CZ"><orgDiv>Department of Obstetrics and Gynecology</orgDiv>
<orgName>Masaryk University</orgName>
<address><city>Brno</city>
<country>Czech Republic</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0029" countryCode="CZ"><orgDiv>Department of Pathology</orgDiv>
<orgName>Masaryk University</orgName>
<address><city>Brno</city>
<country>Czech Republic</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0030" countryCode="CZ"><orgDiv>Department of Medical Genetics</orgDiv>
<orgName>Masaryk University</orgName>
<address><city>Brno</city>
<country>Czech Republic</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0031" countryCode="CH"><orgDiv>Service of Medical Genetics</orgDiv>
<orgName>Division of Neonatology, Centre Hospitalier Universitaire Vaudois</orgName>
<address><city>Lausanne</city>
<country>Switzerland</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0032" countryCode="CH"><orgDiv>Neonatology Service</orgDiv>
<orgName>Lausanne University Hospital</orgName>
<address><city>Lausanne</city>
<country>Switzerland</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0033" countryCode="CN"><orgName>BGI‐Shenzhen</orgName>
<address><city>Shenzhen</city>
<country>China</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0034" countryCode="CH"><orgDiv>Department of Medical Genetics</orgDiv>
<orgName>University of Lausanne</orgName>
<address><city>Lausanne</city>
<country>Switzerland</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0035"><orgDiv>Division of Neonatology</orgDiv>
<orgName>Children's Hospital of Philadelphia</orgName>
<address><city>Philadelphia</city>
<countryPart>Pennsylvania</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0036" countryCode="GB"><orgDiv>Department of Molecular Genetics</orgDiv>
<orgName>Royal Devon and Exeter Hospital</orgName>
<address><city>Exeter</city>
<country>UK</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0037" countryCode="GB"><orgDiv>Department of Clinical Genetics</orgDiv>
<orgName>Royal Devon and Exeter Hospital</orgName>
<address><city>Exeter</city>
<country>UK</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0038" countryCode="NL"><orgDiv>Department of Clinical Genetics</orgDiv>
<orgName>Erasmus Medical Center</orgName>
<address><countryPart>Rotterdam</countryPart>
<country>The Netherlands</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0039" countryCode="SE"><orgDiv>Department of Neonatology</orgDiv>
<orgName>Skane University Hospital</orgName>
<address><city>Lund</city>
<country>Sweden</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0040" countryCode="BE"><orgDiv>Center for Human Genetics</orgDiv>
<orgName>Cliniques Universitaires St‐Luc, Université Catholique de Louvain</orgName>
<address><city>Brussels</city>
<country>Belgium</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0041" countryCode="BE"><orgDiv>Pediatrics Department</orgDiv>
<orgName>Cliniques Universitaires St‐Luc, Université Catholique de Louvain</orgName>
<address><city>Brussels</city>
<country>Belgium</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0042" countryCode="BE"><orgDiv>Pathology Department</orgDiv>
<orgName>Cliniques Universitaires St‐Luc, Université Catholique de Louvain</orgName>
<address><city>Brussels</city>
<country>Belgium</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0043" countryCode="BE"><orgDiv>Pediatric Intensive Care Unit</orgDiv>
<orgName>Cliniques Universitaires St‐Luc, Université Catholique de Louvain</orgName>
<address><city>Brussels</city>
<country>Belgium</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0044"><orgDiv>Edward Mallinckrodt Department of Pediatrics</orgDiv>
<orgName>Washington University School of Medicine</orgName>
<address><city>St. Louis</city>
<countryPart>Missouri</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0045"><orgDiv>Division of Neonatology</orgDiv>
<orgName>Vanderbilt University School of Medicine</orgName>
<address><city>Nashville</city>
<countryPart>Tennessee</countryPart>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0046" countryCode="NL"><orgDiv>Department of Pathology</orgDiv>
<orgName>Erasmus Medical Center</orgName>
<address><countryPart>Rotterdam</countryPart>
<country>The Netherlands</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0047" countryCode="AU"><orgDiv>Children's Intensive Care</orgDiv>
<orgName>Sydney Children's Hospital</orgName>
<address><city>Sydney</city>
<countryPart>NSW</countryPart>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0048" countryCode="AU"><orgDiv>Department of Anatomical Pathology</orgDiv>
<orgName>Sydney Children's Hospital</orgName>
<address><city>Sydney</city>
<countryPart>NSW</countryPart>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0049" countryCode="AU"><orgDiv>Department of Medical Genetics</orgDiv>
<orgName>Sydney Children's Hospital</orgName>
<address><city>Sydney</city>
<countryPart>NSW</countryPart>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0050" countryCode="AU"><orgDiv>Anatomical Pathology</orgDiv>
<orgName>SEALS, Prince of Wales Hospital</orgName>
<address><city>Sydney</city>
<countryPart>NSW</countryPart>
<country>Australia</country>
</address>
</affiliation>
<affiliation xml:id="humu22313-aff-0051" countryCode="AU"><orgDiv>School of Women's and Children's health</orgDiv>
<orgName>The University of NSW</orgName>
<address><city>Sydney</city>
<countryPart>NSW</countryPart>
<country>Australia</country>
</address>
</affiliation>
</affiliationGroup>
<keywordGroup type="author"><keyword xml:id="humu22313-kwd-0001">lung</keyword>
<keyword xml:id="humu22313-kwd-0002">development</keyword>
<keyword xml:id="humu22313-kwd-0003">angiogenesis</keyword>
<keyword xml:id="humu22313-kwd-0004"><fc>ACD</fc>
/<fc>MPV</fc>
</keyword>
<keyword xml:id="humu22313-kwd-0005"><fi>FOXF1</fi>
</keyword>
<keyword xml:id="humu22313-kwd-0006">imprinting</keyword>
</keywordGroup>
<fundingInfo><fundingAgency>NORD</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>Texas Children's Hospital Pilot Project Award</fundingAgency>
</fundingInfo>
<fundingInfo><fundingAgency>NIH</fundingAgency>
<fundingNumber>1RO1HL101975–01</fundingNumber>
</fundingInfo>
<abstractGroup><abstract type="main"><title type="main">ABSTRACT</title>
<p>Alveolar capillary dysplasia with misalignment of pulmonary veins (<fc>ACD</fc>
/<fc>MPV</fc>
) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with <fc>ACD</fc>
/<fc>MPV</fc>
. We have collected <fc>DNA</fc>
and pathological samples from more than 90 infants with <fc>ACD</fc>
/<fc>MPV</fc>
and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of <i>FOXF1</i>
(nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known <fi>FOXF1</fi>
mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative <fc>DNA</fc>
‐binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to <fi>FOXF1</fi>
. These results corroborate and extend our previous observations and further establish involvement of <fi>FOXF1</fi>
in <fc>ACD</fc>
/<fc>MPV</fc>
and lung organogenesis.</p>
</abstract>
<abstract xml:id="humu22313-abs-0001" type="graphical" xml:lang="en"><p><i>FOXF1</i>
mutations result in Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins, a deadly neonatal lung disorder that is uniformly fatal. The data in the article is the outcome of a global collaboration presenting the up to date list of causative mutations in <i>FOXF1</i>
. The maternally inherited familial cases support the paternal imprinting of the gene in human lungs.
<blockFixed type="graphic"><mediaResourceGroup><mediaResource alt="image" href="urn:x-wiley:10597794:media:humu22313:humu22313-gra-0001"></mediaResource>
</mediaResourceGroup>
</blockFixed>
</p>
</abstract>
</abstractGroup>
</contentMeta>
<noteGroup><note xml:id="humu22313-note-0001" numbered="no"><p>Communicated by Mark H. Paalman</p>
</note>
<note xml:id="humu22313-note-0002" numbered="no"><p>Contract grant sponsors: NORD; Texas Children's Hospital Pilot Project Award; NIH grant award (1RO1HL101975–01).</p>
</note>
</noteGroup>
</header>
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<mods version="3.6"><titleInfo lang="en"><title>Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain</title>
</titleInfo>
<titleInfo type="alternative" contentType="CDATA" lang="en"><title>Novel FOXF1 Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain</title>
</titleInfo>
<name type="personal"><namePart type="given">Partha</namePart>
<namePart type="family">Sen</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
<affiliation>E-mail: psen@bcm.edu</affiliation>
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</role>
</name>
<name type="personal"><namePart type="given">Yaping</namePart>
<namePart type="family">Yang</namePart>
<affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</affiliation>
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</role>
</name>
<name type="personal"><namePart type="given">Colby</namePart>
<namePart type="family">Navarro</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
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</role>
</name>
<name type="personal"><namePart type="given">Iris</namePart>
<namePart type="family">Silva</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Przemyslaw</namePart>
<namePart type="family">Szafranski</namePart>
<affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Katarzyna E.</namePart>
<namePart type="family">Kolodziejska</namePart>
<affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Avinash V.</namePart>
<namePart type="family">Dharmadhikari</namePart>
<affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Hasnaa</namePart>
<namePart type="family">Mostafa</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Harry</namePart>
<namePart type="family">Kozakewich</namePart>
<affiliation>Department of Pathology, Children's Hospital Boston, Massachusetts, Boston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Debra</namePart>
<namePart type="family">Kearney</namePart>
<affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">John B.</namePart>
<namePart type="family">Cahill</namePart>
<affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Merrissa</namePart>
<namePart type="family">Whitt</namePart>
<affiliation>Department of Pediatrics, Medical University of South Carolina, South Carolina, Charleston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Masha</namePart>
<namePart type="family">Bilic</namePart>
<affiliation>Department of Pathology and Lab Medicine, Medical University of South Carolina, South Carolina, Charleston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Linda</namePart>
<namePart type="family">Margraf</namePart>
<affiliation>Department of Pathology, University of Texas Southwestern Medical School, Texas, Dallas</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Adrian</namePart>
<namePart type="family">Charles</namePart>
<affiliation>Department of Paediatric Pathology, University of Western Australia, Princess Margaret Hospital for Children, Western Australia, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jack</namePart>
<namePart type="family">Goldblatt</namePart>
<affiliation>Genetic Services of WA, School of Paediatrics and Child Health, University of Western Australia, Western Australia, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kathleen</namePart>
<namePart type="family">Gibson</namePart>
<affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Patrick E.</namePart>
<namePart type="family">Lantz</namePart>
<affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">A. Julian</namePart>
<namePart type="family">Garvin</namePart>
<affiliation>Department of Pathology, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">John</namePart>
<namePart type="family">Petty</namePart>
<affiliation>Department of General Surgery, Wake Forest University, Baptist Medical Center, North Carolina, Winston‐Salem</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Zeina</namePart>
<namePart type="family">Kiblawi</namePart>
<affiliation>Division of Neonatology, Harbor‐UCLA Medical Center, California, Torrance</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Craig</namePart>
<namePart type="family">Zuppan</namePart>
<affiliation>Pediatric Pathology Division, Loma Linda University Medical Center, California, Loma Linda</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Allyn</namePart>
<namePart type="family">McConkie‐Rosell</namePart>
<affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marie T.</namePart>
<namePart type="family">McDonald</namePart>
<affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stacey L.</namePart>
<namePart type="family">Peterson‐Carmichael</namePart>
<affiliation>Department of Pediatrics, Duke University Medical Center, North Carolina, Durham</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jane T.</namePart>
<namePart type="family">Gaede</namePart>
<affiliation>Department of Pathology, Duke University Medical Center, North Carolina, Durham</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Binoy</namePart>
<namePart type="family">Shivanna</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Deborah</namePart>
<namePart type="family">Schady</namePart>
<affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Philippe S.</namePart>
<namePart type="family">Friedlich</namePart>
<affiliation>USC Division of Neonatal Medicine, Keck School of Medicine, California, Los Angeles</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stephen R.</namePart>
<namePart type="family">Hays</namePart>
<affiliation>Anesthesiology and Pediatrics, Vanderbilt University School of Medicine, Tennessee, Nashville</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Irene Valenzuela</namePart>
<namePart type="family">Palafoll</namePart>
<affiliation>Unitat de Genètica Clínica, Hospital Vall d'Hebrón, Barcelona, Spain</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ulrike</namePart>
<namePart type="family">Siebers‐Renelt</namePart>
<affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Axel</namePart>
<namePart type="family">Bohring</namePart>
<affiliation>Institut für Humangenetik, Westfälische Wilhelms‐Universität, Münster, Germany</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Laura S.</namePart>
<namePart type="family">Finn</namePart>
<affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Joseph R.</namePart>
<namePart type="family">Siebert</namePart>
<affiliation>Department of Laboratories, Seattle Children's Hospital and Department of Pathology, University of Washington, Washington, Seattle</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Csaba</namePart>
<namePart type="family">Galambos</namePart>
<affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Lananh</namePart>
<namePart type="family">Nguyen</namePart>
<affiliation>Department of Pathology, University of Pittsburgh, Pennsylvania, Pittsburgh</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Melissa</namePart>
<namePart type="family">Riley</namePart>
<affiliation>Department of Pediatrics, University of Pittsburgh, Pennsylvania, Pittsburgh</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Nicolas</namePart>
<namePart type="family">Chassaing</namePart>
<affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Adeline</namePart>
<namePart type="family">Vigouroux</namePart>
<affiliation>Department of Medical Genetics, CHU Toulouse, Purpan Hospital, Toulouse, France</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Gustavo</namePart>
<namePart type="family">Rocha</namePart>
<affiliation>Department of Pediatrics, Hospital de Sao Joao, Porto, Portugal</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Susana</namePart>
<namePart type="family">Fernandes</namePart>
<affiliation>Department of Genetics, Faculty of Medicine, Porto University, Porto, Portugal</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jane</namePart>
<namePart type="family">Brumbaugh</namePart>
<affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Kari</namePart>
<namePart type="family">Roberts</namePart>
<affiliation>Department of Pediatrics, University of Minnesota, Minnesota, Minneapolis</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Luk</namePart>
<namePart type="family">Ho‐ming</namePart>
<affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ivan F. M.</namePart>
<namePart type="family">Lo</namePart>
<affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stephen</namePart>
<namePart type="family">Lam</namePart>
<affiliation>Clinical Genetic Service, Department of Health, Hong Kong SAR, China</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Romana</namePart>
<namePart type="family">Gerychova</namePart>
<affiliation>Department of Obstetrics and Gynecology, Masaryk University, Brno, Czech Republic</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Marta</namePart>
<namePart type="family">Jezova</namePart>
<affiliation>Department of Pathology, Masaryk University, Brno, Czech Republic</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Iveta</namePart>
<namePart type="family">Valaskova</namePart>
<affiliation>Department of Medical Genetics, Masaryk University, Brno, Czech Republic</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Florence</namePart>
<namePart type="family">Fellmann</namePart>
<affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Katayoun</namePart>
<namePart type="family">Afshar</namePart>
<affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Eric</namePart>
<namePart type="family">Giannoni</namePart>
<affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Vincent</namePart>
<namePart type="family">Muhlethaler</namePart>
<affiliation>Neonatology Service, Lausanne University Hospital, Lausanne, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jinlong</namePart>
<namePart type="family">Liang</namePart>
<affiliation>BGI‐Shenzhen, Shenzhen, China</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jacques S.</namePart>
<namePart type="family">Beckmann</namePart>
<affiliation>Service of Medical Genetics, Division of Neonatology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland</affiliation>
<affiliation>Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Janet</namePart>
<namePart type="family">Lioy</namePart>
<affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Hitesh</namePart>
<namePart type="family">Deshmukh</namePart>
<affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Lakshmi</namePart>
<namePart type="family">Srinivasan</namePart>
<affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Daniel T.</namePart>
<namePart type="family">Swarr</namePart>
<affiliation>Division of Neonatology, Children's Hospital of Philadelphia, Pennsylvania, Philadelphia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Melissa</namePart>
<namePart type="family">Sloman</namePart>
<affiliation>Department of Molecular Genetics, Royal Devon and Exeter Hospital, Exeter, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Charles</namePart>
<namePart type="family">Shaw‐Smith</namePart>
<affiliation>Department of Clinical Genetics, Royal Devon and Exeter Hospital, Exeter, UK</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Rosa Laura</namePart>
<namePart type="family">van Loon</namePart>
<affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Cecilia</namePart>
<namePart type="family">Hagman</namePart>
<affiliation>Department of Neonatology, Skane University Hospital, Lund, Sweden</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Yves</namePart>
<namePart type="family">Sznajer</namePart>
<affiliation>Center for Human Genetics, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Catherine</namePart>
<namePart type="family">Barrea</namePart>
<affiliation>Pediatrics Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Christine</namePart>
<namePart type="family">Galant</namePart>
<affiliation>Pathology Department, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Thierry</namePart>
<namePart type="family">Detaille</namePart>
<affiliation>Pediatric Intensive Care Unit, Cliniques Universitaires St‐Luc, Université Catholique de Louvain, Brussels, Belgium</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Jennifer A.</namePart>
<namePart type="family">Wambach</namePart>
<affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">F. Sessions</namePart>
<namePart type="family">Cole</namePart>
<affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Aaron</namePart>
<namePart type="family">Hamvas</namePart>
<affiliation>Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, Missouri, St. Louis</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Lawrence S.</namePart>
<namePart type="family">Prince</namePart>
<affiliation>Division of Neonatology, Vanderbilt University School of Medicine, Tennessee, Nashville</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Karin E.M.</namePart>
<namePart type="family">Diderich</namePart>
<affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Alice S.</namePart>
<namePart type="family">Brooks</namePart>
<affiliation>Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Robert M.</namePart>
<namePart type="family">Verdijk</namePart>
<affiliation>Department of Pathology, Erasmus Medical Center, Rotterdam, The Netherlands</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Hari</namePart>
<namePart type="family">Ravindranathan</namePart>
<affiliation>Children's Intensive Care, Sydney Children's Hospital, NSW, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Ella</namePart>
<namePart type="family">Sugo</namePart>
<affiliation>Department of Anatomical Pathology, Sydney Children's Hospital, Sydney, NSW, Australia</affiliation>
<affiliation>Anatomical Pathology, SEALS, Prince of Wales Hospital, NSW, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">David</namePart>
<namePart type="family">Mowat</namePart>
<affiliation>Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia</affiliation>
<affiliation>School of Women's and Children's health, The University of NSW, NSW, Sydney, Australia</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Michael L.</namePart>
<namePart type="family">Baker</namePart>
<affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Claire</namePart>
<namePart type="family">Langston</namePart>
<affiliation>Department of Pathology & Immunology, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Stephen</namePart>
<namePart type="family">Welty</namePart>
<affiliation>Department of Pediatrics, Baylor College of Medicine, Texas, Houston</affiliation>
<role><roleTerm type="text">author</roleTerm>
</role>
</name>
<name type="personal"><namePart type="given">Pawel</namePart>
<namePart type="family">Stankiewicz</namePart>
<affiliation>Department of Molecular & Human Genetics, Baylor College of Medicine, Texas, Houston</affiliation>
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<originInfo><publisher>Blackwell Publishing Ltd</publisher>
<dateIssued encoding="w3cdtf">2013-06</dateIssued>
<dateCreated encoding="w3cdtf">2013-03-22</dateCreated>
<dateCaptured encoding="w3cdtf">2012-11-27</dateCaptured>
<dateValid encoding="w3cdtf">2013-02-22</dateValid>
<copyrightDate encoding="w3cdtf">2013</copyrightDate>
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<language><languageTerm type="code" authority="rfc3066">en</languageTerm>
<languageTerm type="code" authority="iso639-2b">eng</languageTerm>
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<abstract>Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a rare and lethal developmental disorder of the lung defined by a constellation of characteristic histopathological features. Nonpulmonary anomalies involving organs of gastrointestinal, cardiovascular, and genitourinary systems have been identified in approximately 80% of patients with ACD/MPV. We have collected DNA and pathological samples from more than 90 infants with ACD/MPV and their family members. Since the publication of our initial report of four point mutations and 10 deletions, we have identified an additional 38 novel nonsynonymous mutations of FOXF1 (nine nonsense, seven frameshift, one inframe deletion, 20 missense, and one no stop). This report represents an up to date list of all known FOXF1 mutations to the best of our knowledge. Majority of the cases are sporadic. We report four familial cases of which three show maternal inheritance, consistent with paternal imprinting of the gene. Twenty five mutations (60%) are located within the putative DNA‐binding domain, indicating its plausible role in FOXF1 function. Five mutations map to the second exon. We identified two additional genic and eight genomic deletions upstream to FOXF1. These results corroborate and extend our previous observations and further establish involvement of FOXF1 in ACD/MPV and lung organogenesis.</abstract>
<abstract type="graphical" lang="en">FOXF1 mutations result in Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins, a deadly neonatal lung disorder that is uniformly fatal. The data in the article is the outcome of a global collaboration presenting the up to date list of causative mutations in FOXF1. The maternally inherited familial cases support the paternal imprinting of the gene in human lungs.</abstract>
<note type="funding">NORD</note>
<note type="funding">Texas Children's Hospital Pilot Project Award</note>
<note type="funding">NIH - No. 1RO1HL101975–01; </note>
<subject><genre>keywords</genre>
<topic>lung</topic>
<topic>development</topic>
<topic>angiogenesis</topic>
<topic>ACD/MPV</topic>
<topic>FOXF1</topic>
<topic>imprinting</topic>
</subject>
<relatedItem type="host"><titleInfo><title>Human Mutation</title>
</titleInfo>
<titleInfo type="abbreviated"><title>Human Mutation</title>
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<genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre>
<subject><genre>article-category</genre>
<topic>Mutation Update</topic>
</subject>
<identifier type="ISSN">1059-7794</identifier>
<identifier type="eISSN">1098-1004</identifier>
<identifier type="DOI">10.1002/(ISSN)1098-1004</identifier>
<identifier type="PublisherID">HUMU</identifier>
<part><date>2013</date>
<detail type="volume"><caption>vol.</caption>
<number>34</number>
</detail>
<detail type="issue"><caption>no.</caption>
<number>6</number>
</detail>
<extent unit="pages"><start>801</start>
<end>811</end>
<total>11</total>
</extent>
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<identifier type="istex">E58CBEBF6D6AB64F5BDEFAB3D2FBE025D539A672</identifier>
<identifier type="ark">ark:/67375/WNG-P35QZXVL-P</identifier>
<identifier type="DOI">10.1002/humu.22313</identifier>
<identifier type="ArticleID">HUMU22313</identifier>
<accessCondition type="use and reproduction" contentType="copyright">Copyright © 2013 Wiley Periodicals, Inc., A Wiley Company© 2013 Wiley Periodicals, Inc.</accessCondition>
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