Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database
Identifieur interne : 002879 ( Istex/Curation ); précédent : 002878; suivant : 002880Update of PAX2 mutations in renal coloboma syndrome and establishment of a locus‐specific database
Auteurs : Matthew Bower [États-Unis] ; Rémi Salomon [France] ; Judith Allanson [Canada] ; Corinne Antignac [France] ; Francesco Benedicenti [Italie] ; Elisa Benetti [Italie] ; Gil Binenbaum [États-Unis] ; Uffe B. Jensen [Danemark] ; Pierre Cochat [France] ; Stephane Decramer [France] ; Joanne Dixon [Nouvelle-Zélande] ; Regen Drouin [Canada] ; Marni J. Falk [États-Unis] ; Holly Feret [États-Unis] ; Robert Gise [États-Unis] ; Alasdair Hunter [Canada] ; Kisha Johnson [États-Unis] ; Rajiv Kumar [Nouvelle-Zélande] ; Marie Pierre Lavocat [France] ; Laura Martin [États-Unis] ; Vincent Morinière [France] ; David Mowat [Australie] ; Luisa Murer [Italie] ; Hiep T. Nguyen [États-Unis] ; Gabriela Peretz-Amit [Israël] ; Eric Pierce [États-Unis] ; Emily Place [États-Unis] ; Nancy Rodig [États-Unis] ; Ann Salerno [États-Unis] ; Sujatha Sastry [États-Unis] ; Tadashi Sato [Japon] ; John A. Sayer [Royaume-Uni] ; Gerard C. P. Schaafsma [Pays-Bas] ; Lawrence Shoemaker [États-Unis] ; David W. Stockton [États-Unis] ; Wen-Hann Tan [États-Unis] ; Romano Tenconi [Italie] ; Philippe Vanhille [France] ; Abhay Vats [États-Unis] ; Xinjing Wang [États-Unis] ; Berta Warman [États-Unis] ; Richard G. Weleber [États-Unis] ; Susan M. White [Australie] ; Carolyn Wilson-Brackett [États-Unis] ; Dina J. Zand [États-Unis] ; Michael Eccles [Nouvelle-Zélande] ; Lisa A. Schimmenti [États-Unis] ; Laurence Heidet [France]Source :
- Human Mutation [ 1059-7794 ] ; 2012-03.
Descripteurs français
- Wicri :
- topic : Base de données, Génétique.
English descriptors
- KwdEn :
- Abnormality, Allele, Amino, Amino acid, Amino acid level, Amino acids, Anomaly, Cdna, Cdna transcript, Coding region, Codon, Coloboma, Colobomas, Database, Deletion, Dysplasia, Eccles, Exon, Familial mutation, Family history, Frameshift mutations, Gene, Genet, Genetics, Genomic, Germline mosaicism, Hearing loss, Homeodomain, Hopital malades, Hospital boston, Human genetics, Human mutation, Hypoplasia, Independent families, Initiation codon, Intron, Isoform, Journal guidelines, Many patients, Medical genetics, Missense, Missense mutations, Missense variations, Mutation, Ndings, Nephrol, Nonsense mutations, Octapeptide, Octapeptide domain, Ocular phenotype, Ophthalmological, Optic, Optic disc, Optic nerve, Optic nerve abnormalities, Optic nerve coloboma, Original report, Papillorenal syndrome, Partial homeodomain, Pathogenic mutations, Pax2, Pax2 expression, Pax2 gene, Pax2 mutation, Pax2 mutations, Pax2 protein, Pediatrics, Phenotype, Present time, Reference sequence, Renal, Renal coloboma syndrome, Renal disease, Renal failure, Renal hypodysplasia, Renal hypoplasia, Renal phenotype, Report supp, Salomon, Sanyanusin, Schimmenti, Splice, Supp, Syndrome, Transactivation, Transactivation domain, Translation initiation codon, Unique mutations, Variable phenotype, Variant.
- Teeft :
- Abnormality, Allele, Amino, Amino acid, Amino acid level, Amino acids, Anomaly, Cdna, Cdna transcript, Coding region, Codon, Coloboma, Colobomas, Database, Deletion, Dysplasia, Eccles, Exon, Familial mutation, Family history, Frameshift mutations, Gene, Genet, Genetics, Genomic, Germline mosaicism, Hearing loss, Homeodomain, Hopital malades, Hospital boston, Human genetics, Human mutation, Hypoplasia, Independent families, Initiation codon, Intron, Isoform, Journal guidelines, Many patients, Medical genetics, Missense, Missense mutations, Missense variations, Mutation, Ndings, Nephrol, Nonsense mutations, Octapeptide, Octapeptide domain, Ocular phenotype, Ophthalmological, Optic, Optic disc, Optic nerve, Optic nerve abnormalities, Optic nerve coloboma, Original report, Papillorenal syndrome, Partial homeodomain, Pathogenic mutations, Pax2, Pax2 expression, Pax2 gene, Pax2 mutation, Pax2 mutations, Pax2 protein, Pediatrics, Phenotype, Present time, Reference sequence, Renal, Renal coloboma syndrome, Renal disease, Renal failure, Renal hypodysplasia, Renal hypoplasia, Renal phenotype, Report supp, Salomon, Sanyanusin, Schimmenti, Splice, Supp, Syndrome, Transactivation, Transactivation domain, Translation initiation codon, Unique mutations, Variable phenotype, Variant.
Abstract
Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐dominant disorder characterized by ocular and renal malformations. Mutations in the paired‐box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus‐specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed. Hum Mutat 33:457–466, 2012. © 2011 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/humu.22020
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<author><name sortKey="Drouin, Regen" sort="Drouin, Regen" uniqKey="Drouin R" first="Regen" last="Drouin">Regen Drouin</name>
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<author><name sortKey="Feret, Holly" sort="Feret, Holly" uniqKey="Feret H" first="Holly" last="Feret">Holly Feret</name>
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<author><name sortKey="Gise, Robert" sort="Gise, Robert" uniqKey="Gise R" first="Robert" last="Gise">Robert Gise</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Ophthalmology, UMASS Memorial Children's Medical Center, Worcester, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
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<wicri:cityArea>Department of Ophthalmology, UMASS Memorial Children's Medical Center, Worcester</wicri:cityArea>
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<author><name sortKey="Hunter, Alasdair" sort="Hunter, Alasdair" uniqKey="Hunter A" first="Alasdair" last="Hunter">Alasdair Hunter</name>
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<country xml:lang="fr">Canada</country>
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<country xml:lang="fr">Canada</country>
<wicri:regionArea>University of Ottawa, Ottawa, Ontario</wicri:regionArea>
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<author><name sortKey="Johnson, Kisha" sort="Johnson, Kisha" uniqKey="Johnson K" first="Kisha" last="Johnson">Kisha Johnson</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Illinois</region>
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<wicri:cityArea>Department of Pediatrics, Rush University Medical Center, Chicago</wicri:cityArea>
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<author><name sortKey="Kumar, Rajiv" sort="Kumar, Rajiv" uniqKey="Kumar R" first="Rajiv" last="Kumar">Rajiv Kumar</name>
<affiliation wicri:level="1"><mods:affiliation>Regional Blood and Cancer Services, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Regional Blood and Cancer Services, Auckland City Hospital, Auckland</wicri:regionArea>
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<author><name sortKey="Lavocat, Marie Pierre" sort="Lavocat, Marie Pierre" uniqKey="Lavocat M" first="Marie Pierre" last="Lavocat">Marie Pierre Lavocat</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, CHU Saint Etienne, Hopital Nord, Saint Etienne, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Paediatrics, CHU Saint Etienne, Hopital Nord, Saint Etienne</wicri:regionArea>
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<author><name sortKey="Martin, Laura" sort="Martin, Laura" uniqKey="Martin L" first="Laura" last="Martin">Laura Martin</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetics, Nemours Children's Clinics, Jacksonville, Florida</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
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<wicri:cityArea>Division of Genetics, Nemours Children's Clinics, Jacksonville</wicri:cityArea>
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<author><name sortKey="Moriniere, Vincent" sort="Moriniere, Vincent" uniqKey="Moriniere V" first="Vincent" last="Morinière">Vincent Morinière</name>
<affiliation wicri:level="1"><mods:affiliation>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris</wicri:regionArea>
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<affiliation wicri:level="1"><mods:affiliation>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
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<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medical Genetics, Sydney Children's Hospital, Sydney</wicri:regionArea>
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<author><name sortKey="Murer, Luisa" sort="Murer, Luisa" uniqKey="Murer L" first="Luisa" last="Murer">Luisa Murer</name>
<affiliation wicri:level="1"><mods:affiliation>Nephrology, Dialysis and Transplant Unit, University of Padova, Padova, Italy</mods:affiliation>
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<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, University of Padova, Padova</wicri:regionArea>
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<author><name sortKey="Nguyen, Hiep T" sort="Nguyen, Hiep T" uniqKey="Nguyen H" first="Hiep T." last="Nguyen">Hiep T. Nguyen</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Urology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
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<wicri:cityArea>Department of Urology, Children's Hospital Boston, Boston</wicri:cityArea>
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<author><name sortKey="Peretz Mit, Gabriela" sort="Peretz Mit, Gabriela" uniqKey="Peretz Mit G" first="Gabriela" last="Peretz-Amit">Gabriela Peretz-Amit</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Rabin Medical Center, Petah Tikvah, Israel</mods:affiliation>
<country xml:lang="fr">Israël</country>
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<author><name sortKey="Pierce, Eric" sort="Pierce, Eric" uniqKey="Pierce E" first="Eric" last="Pierce">Eric Pierce</name>
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<placeName><region type="state">Pennsylvanie</region>
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<author><name sortKey="Place, Emily" sort="Place, Emily" uniqKey="Place E" first="Emily" last="Place">Emily Place</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
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<country xml:lang="fr">États-Unis</country>
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</affiliation>
</author>
<author><name sortKey="Rodig, Nancy" sort="Rodig, Nancy" uniqKey="Rodig N" first="Nancy" last="Rodig">Nancy Rodig</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Nephrology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Nephrology, Children's Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Salerno, Ann" sort="Salerno, Ann" uniqKey="Salerno A" first="Ann" last="Salerno">Ann Salerno</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, UMASS Memorial Children's Medical Center, Worcester, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, UMASS Memorial Children's Medical Center, Worcester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Sastry, Sujatha" sort="Sastry, Sujatha" uniqKey="Sastry S" first="Sujatha" last="Sastry">Sujatha Sastry</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Sato, Tadashi" sort="Sato, Tadashi" uniqKey="Sato T" first="Tadashi" last="Sato">Tadashi Sato</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Saga Medical School, Saga City, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Saga Medical School, Saga City</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sayer, John A" sort="Sayer, John A" uniqKey="Sayer J" first="John A." last="Sayer">John A. Sayer</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schaafsma, Gerard C P" sort="Schaafsma, Gerard C P" uniqKey="Schaafsma G" first="Gerard C. P." last="Schaafsma">Gerard C. P. Schaafsma</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shoemaker, Lawrence" sort="Shoemaker, Lawrence" uniqKey="Shoemaker L" first="Lawrence" last="Shoemaker">Lawrence Shoemaker</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Nephrology, University of Louisville, Louisville, Kentucky</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Kentucky</region>
</placeName>
<wicri:cityArea>Division of Pediatric Nephrology, University of Louisville, Louisville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Stockton, David W" sort="Stockton, David W" uniqKey="Stockton D" first="David W." last="Stockton">David W. Stockton</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Wayne State School of Medicine, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Wayne State School of Medicine, Detroit</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tan, Wen Ann" sort="Tan, Wen Ann" uniqKey="Tan W" first="Wen-Hann" last="Tan">Wen-Hann Tan</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetics, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Genetics, Children's Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tenconi, Romano" sort="Tenconi, Romano" uniqKey="Tenconi R" first="Romano" last="Tenconi">Romano Tenconi</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, University of Padova, Padova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vanhille, Philippe" sort="Vanhille, Philippe" uniqKey="Vanhille P" first="Philippe" last="Vanhille">Philippe Vanhille</name>
<affiliation wicri:level="1"><mods:affiliation>Service de Néphrologie et de Médecine Interne, Centre Hospitalier de Valenciennes, Valenciennes, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Néphrologie et de Médecine Interne, Centre Hospitalier de Valenciennes, Valenciennes</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vats, Abhay" sort="Vats, Abhay" uniqKey="Vats A" first="Abhay" last="Vats">Abhay Vats</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Nephrology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Pediatric Nephrology, Department of Pediatrics, University of Pittsburgh, Pittsburgh</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Wang, Xinjing" sort="Wang, Xinjing" uniqKey="Wang X" first="Xinjing" last="Wang">Xinjing Wang</name>
<affiliation wicri:level="2"><mods:affiliation>National Eye Institute, National Institutes of Health, Bethesda Maryland</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>National Eye Institute, National Institutes of Health</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Warman, Berta" sort="Warman, Berta" uniqKey="Warman B" first="Berta" last="Warman">Berta Warman</name>
<affiliation wicri:level="2"><mods:affiliation>Newborn Screening Program, State of Minnesota, Minneapolis, Minnesota</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Newborn Screening Program, State of Minnesota, Minneapolis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G." last="Weleber">Richard G. Weleber</name>
<affiliation wicri:level="2"><mods:affiliation>Casey Eye Institute, Department of Ophthalmology and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Oregon</region>
</placeName>
<wicri:cityArea>Casey Eye Institute, Department of Ophthalmology and Molecular and Medical Genetics, Oregon Health & Science University, Portland</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M." last="White">Susan M. White</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic Health Services Victoria and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Services Victoria and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wilson Rackett, Carolyn" sort="Wilson Rackett, Carolyn" uniqKey="Wilson Rackett C" first="Carolyn" last="Wilson-Brackett">Carolyn Wilson-Brackett</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Genetics, Fullerton Genetics Center, Asheville, North Carolina</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Genetics, Fullerton Genetics Center, Asheville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Zand, Dina J" sort="Zand, Dina J" uniqKey="Zand D" first="Dina J." last="Zand">Dina J. Zand</name>
<affiliation wicri:level="3"><mods:affiliation>Division of Genetics and Metabolism, Children's National Medical Center, Washington D.C.</mods:affiliation>
<country>États-Unis</country>
<placeName><settlement type="city">Washington (district de Columbia)</settlement>
<region type="state">District de Columbia</region>
</placeName>
<wicri:orgArea>Division of Genetics and Metabolism, Children's National Medical Center</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Eccles, Michael" sort="Eccles, Michael" uniqKey="Eccles M" first="Michael" last="Eccles">Michael Eccles</name>
<affiliation wicri:level="1"><mods:affiliation>Developmental Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand</mods:affiliation>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Developmental Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schimmenti, Lisa A" sort="Schimmenti, Lisa A" uniqKey="Schimmenti L" first="Lisa A." last="Schimmenti">Lisa A. Schimmenti</name>
<affiliation wicri:level="2"><mods:affiliation>Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota, Minneapolis Minnesota</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name>
<affiliation wicri:level="1"><mods:affiliation>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
</author>
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<sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Update of <hi rend="italic">PAX2</hi>
mutations in renal coloboma syndrome and establishment of a locus‐specific database<ref type="note" target="#fn1"></ref>
</title>
<author><name sortKey="Bower, Matthew" sort="Bower, Matthew" uniqKey="Bower M" first="Matthew" last="Bower">Matthew Bower</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetics and Metabolism, University of Minnesota Medical Center, Fairview, Minneapolis, Minnesota</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Division of Genetics and Metabolism, University of Minnesota Medical Center, Fairview, Minneapolis</wicri:cityArea>
</affiliation>
<affiliation><mods:affiliation>E-mail: mbower1@fairview.org</mods:affiliation>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Correspondence address: Division of Genetics and Metabolism, 420 Delaware St SE (MMC 485), Minneapolis, MN</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Correspondence address: Division of Genetics and Metabolism, 420 Delaware St SE (MMC 485), Minneapolis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Salomon, Remi" sort="Salomon, Remi" uniqKey="Salomon R" first="Rémi" last="Salomon">Rémi Salomon</name>
<affiliation wicri:level="1"><mods:affiliation>Inserm U983, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U983, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Descartes, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Allanson, Judith" sort="Allanson, Judith" uniqKey="Allanson J" first="Judith" last="Allanson">Judith Allanson</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>University of Ottawa, Ottawa, Ontario, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>University of Ottawa, Ottawa, Ontario</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Antignac, Corinne" sort="Antignac, Corinne" uniqKey="Antignac C" first="Corinne" last="Antignac">Corinne Antignac</name>
<affiliation wicri:level="1"><mods:affiliation>Inserm U983, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Inserm U983, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Université Paris Descartes, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Université Paris Descartes, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Benedicenti, Francesco" sort="Benedicenti, Francesco" uniqKey="Benedicenti F" first="Francesco" last="Benedicenti">Francesco Benedicenti</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic Counseling Service of South Tyrol, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Genetic Counseling Service of South Tyrol, Department of Pediatrics, Regional Hospital of Bolzano, Bolzano</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Benetti, Elisa" sort="Benetti, Elisa" uniqKey="Benetti E" first="Elisa" last="Benetti">Elisa Benetti</name>
<affiliation wicri:level="1"><mods:affiliation>Nephrology, Dialysis and Transplant Unit, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Nephrology, Dialysis and Transplant Unit, University of Padova, Padova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Binenbaum, Gil" sort="Binenbaum, Gil" uniqKey="Binenbaum G" first="Gil" last="Binenbaum">Gil Binenbaum</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Jensen, Uffe B" sort="Jensen, Uffe B" uniqKey="Jensen U" first="Uffe B." last="Jensen">Uffe B. Jensen</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgardsvej 21C, Aarhus, Denmark</mods:affiliation>
<country xml:lang="fr">Danemark</country>
<wicri:regionArea>Department of Clinical Genetics, Aarhus University Hospital, Brendstrupgardsvej 21C, Aarhus</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Cochat, Pierre" sort="Cochat, Pierre" uniqKey="Cochat P" first="Pierre" last="Cochat">Pierre Cochat</name>
<affiliation wicri:level="1"><mods:affiliation>Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon, Lyon, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre de Référence des Maladies Rénales Rares, Hospices Civils de Lyon, Lyon</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Decramer, Stephane" sort="Decramer, Stephane" uniqKey="Decramer S" first="Stephane" last="Decramer">Stephane Decramer</name>
<affiliation wicri:level="1"><mods:affiliation>CHU Toulouse, Hôpital des Enfants, Service de Néphrologie ‐ Médecine Interne ‐ Hypertension Pédiatrique, 31059 Toulouse, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>CHU Toulouse, Hôpital des Enfants, Service de Néphrologie ‐ Médecine Interne ‐ Hypertension Pédiatrique, 31059 Toulouse</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Centre De Référence des Maladies Rénales Rares du Sud Ouest (SORARE), France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Centre De Référence des Maladies Rénales Rares du Sud Ouest (SORARE)</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Institut of Cardiovascular and Metabolic Disease, Toulouse, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Institut National de la Santé et de la Recherche Médicale (INSERM), U1048, Institut of Cardiovascular and Metabolic Disease, Toulouse</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Dixon, Joanne" sort="Dixon, Joanne" uniqKey="Dixon J" first="Joanne" last="Dixon">Joanne Dixon</name>
<affiliation wicri:level="1"><mods:affiliation>Central and Southern Regional Genetics Service, Wellington Hospital, Wellington, New Zealand</mods:affiliation>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Central and Southern Regional Genetics Service, Wellington Hospital, Wellington</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Drouin, Regen" sort="Drouin, Regen" uniqKey="Drouin R" first="Regen" last="Drouin">Regen Drouin</name>
<affiliation wicri:level="1"><mods:affiliation>Division of Genetics, Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Quebec, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Division of Genetics, Department of Pediatrics, Universite de Sherbrooke, Sherbrooke, Quebec</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Falk, Marni J" sort="Falk, Marni J" uniqKey="Falk M" first="Marni J." last="Falk">Marni J. Falk</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Feret, Holly" sort="Feret, Holly" uniqKey="Feret H" first="Holly" last="Feret">Holly Feret</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Gise, Robert" sort="Gise, Robert" uniqKey="Gise R" first="Robert" last="Gise">Robert Gise</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Ophthalmology, UMASS Memorial Children's Medical Center, Worcester, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, UMASS Memorial Children's Medical Center, Worcester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Hunter, Alasdair" sort="Hunter, Alasdair" uniqKey="Hunter A" first="Alasdair" last="Hunter">Alasdair Hunter</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>University of Ottawa, Ottawa, Ontario, Canada</mods:affiliation>
<country xml:lang="fr">Canada</country>
<wicri:regionArea>University of Ottawa, Ottawa, Ontario</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Johnson, Kisha" sort="Johnson, Kisha" uniqKey="Johnson K" first="Kisha" last="Johnson">Kisha Johnson</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Rush University Medical Center, Chicago, Illinois</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Illinois</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Rush University Medical Center, Chicago</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Kumar, Rajiv" sort="Kumar, Rajiv" uniqKey="Kumar R" first="Rajiv" last="Kumar">Rajiv Kumar</name>
<affiliation wicri:level="1"><mods:affiliation>Regional Blood and Cancer Services, Auckland City Hospital, Auckland, New Zealand</mods:affiliation>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Regional Blood and Cancer Services, Auckland City Hospital, Auckland</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Lavocat, Marie Pierre" sort="Lavocat, Marie Pierre" uniqKey="Lavocat M" first="Marie Pierre" last="Lavocat">Marie Pierre Lavocat</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Paediatrics, CHU Saint Etienne, Hopital Nord, Saint Etienne, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Department of Paediatrics, CHU Saint Etienne, Hopital Nord, Saint Etienne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Martin, Laura" sort="Martin, Laura" uniqKey="Martin L" first="Laura" last="Martin">Laura Martin</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetics, Nemours Children's Clinics, Jacksonville, Florida</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Floride</region>
</placeName>
<wicri:cityArea>Division of Genetics, Nemours Children's Clinics, Jacksonville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Moriniere, Vincent" sort="Moriniere, Vincent" uniqKey="Moriniere V" first="Vincent" last="Morinière">Vincent Morinière</name>
<affiliation wicri:level="1"><mods:affiliation>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, département de Génétique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Mowat, David" sort="Mowat, David" uniqKey="Mowat D" first="David" last="Mowat">David Mowat</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Sydney Children's Hospital, Sydney, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Department of Medical Genetics, Sydney Children's Hospital, Sydney</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Murer, Luisa" sort="Murer, Luisa" uniqKey="Murer L" first="Luisa" last="Murer">Luisa Murer</name>
<affiliation wicri:level="1"><mods:affiliation>Nephrology, Dialysis and Transplant Unit, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Nephrology, Dialysis and Transplant Unit, University of Padova, Padova</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, University of Padova, Padova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Nguyen, Hiep T" sort="Nguyen, Hiep T" uniqKey="Nguyen H" first="Hiep T." last="Nguyen">Hiep T. Nguyen</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Urology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Urology, Children's Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Peretz Mit, Gabriela" sort="Peretz Mit, Gabriela" uniqKey="Peretz Mit G" first="Gabriela" last="Peretz-Amit">Gabriela Peretz-Amit</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Medical Genetics, Rabin Medical Center, Petah Tikvah, Israel</mods:affiliation>
<country xml:lang="fr">Israël</country>
<wicri:regionArea>Department of Medical Genetics, Rabin Medical Center, Petah Tikvah</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Pierce, Eric" sort="Pierce, Eric" uniqKey="Pierce E" first="Eric" last="Pierce">Eric Pierce</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Ophthalmology, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Place, Emily" sort="Place, Emily" uniqKey="Place E" first="Emily" last="Place">Emily Place</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Rodig, Nancy" sort="Rodig, Nancy" uniqKey="Rodig N" first="Nancy" last="Rodig">Nancy Rodig</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Nephrology, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Nephrology, Children's Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Salerno, Ann" sort="Salerno, Ann" uniqKey="Salerno A" first="Ann" last="Salerno">Ann Salerno</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Pediatrics, UMASS Memorial Children's Medical Center, Worcester, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Department of Pediatrics, UMASS Memorial Children's Medical Center, Worcester</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Sastry, Sujatha" sort="Sastry, Sujatha" uniqKey="Sastry S" first="Sujatha" last="Sastry">Sujatha Sastry</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Sato, Tadashi" sort="Sato, Tadashi" uniqKey="Sato T" first="Tadashi" last="Sato">Tadashi Sato</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, Saga Medical School, Saga City, Japan</mods:affiliation>
<country xml:lang="fr">Japon</country>
<wicri:regionArea>Department of Pediatrics, Saga Medical School, Saga City</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Sayer, John A" sort="Sayer, John A" uniqKey="Sayer J" first="John A." last="Sayer">John A. Sayer</name>
<affiliation wicri:level="1"><mods:affiliation>Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne, United Kingdom</mods:affiliation>
<country xml:lang="fr">Royaume-Uni</country>
<wicri:regionArea>Institute of Genetic Medicine, International Centre for Life, Newcastle University, Central Parkway, Newcastle upon Tyne</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schaafsma, Gerard C P" sort="Schaafsma, Gerard C P" uniqKey="Schaafsma G" first="Gerard C. P." last="Schaafsma">Gerard C. P. Schaafsma</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands</mods:affiliation>
<country xml:lang="fr">Pays-Bas</country>
<wicri:regionArea>Department of Human Genetics, Leiden University Medical Center, Leiden</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Shoemaker, Lawrence" sort="Shoemaker, Lawrence" uniqKey="Shoemaker L" first="Lawrence" last="Shoemaker">Lawrence Shoemaker</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Nephrology, University of Louisville, Louisville, Kentucky</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Kentucky</region>
</placeName>
<wicri:cityArea>Division of Pediatric Nephrology, University of Louisville, Louisville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Stockton, David W" sort="Stockton, David W" uniqKey="Stockton D" first="David W." last="Stockton">David W. Stockton</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Children's Hospital of Michigan, Detroit</wicri:cityArea>
</affiliation>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetic and Metabolic Disorders, Wayne State School of Medicine, Detroit, Michigan</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Michigan</region>
</placeName>
<wicri:cityArea>Division of Genetic and Metabolic Disorders, Wayne State School of Medicine, Detroit</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tan, Wen Ann" sort="Tan, Wen Ann" uniqKey="Tan W" first="Wen-Hann" last="Tan">Wen-Hann Tan</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Genetics, Children's Hospital Boston, Boston, Massachusetts</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Massachusetts</region>
</placeName>
<wicri:cityArea>Division of Genetics, Children's Hospital Boston, Boston</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Tenconi, Romano" sort="Tenconi, Romano" uniqKey="Tenconi R" first="Romano" last="Tenconi">Romano Tenconi</name>
<affiliation wicri:level="1"><mods:affiliation>Department of Pediatrics, University of Padova, Padova, Italy</mods:affiliation>
<country xml:lang="fr">Italie</country>
<wicri:regionArea>Department of Pediatrics, University of Padova, Padova</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vanhille, Philippe" sort="Vanhille, Philippe" uniqKey="Vanhille P" first="Philippe" last="Vanhille">Philippe Vanhille</name>
<affiliation wicri:level="1"><mods:affiliation>Service de Néphrologie et de Médecine Interne, Centre Hospitalier de Valenciennes, Valenciennes, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>Service de Néphrologie et de Médecine Interne, Centre Hospitalier de Valenciennes, Valenciennes</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Vats, Abhay" sort="Vats, Abhay" uniqKey="Vats A" first="Abhay" last="Vats">Abhay Vats</name>
<affiliation wicri:level="2"><mods:affiliation>Division of Pediatric Nephrology, Department of Pediatrics, University of Pittsburgh, Pittsburgh, Pennsylvania</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Pennsylvanie</region>
</placeName>
<wicri:cityArea>Division of Pediatric Nephrology, Department of Pediatrics, University of Pittsburgh, Pittsburgh</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Wang, Xinjing" sort="Wang, Xinjing" uniqKey="Wang X" first="Xinjing" last="Wang">Xinjing Wang</name>
<affiliation wicri:level="2"><mods:affiliation>National Eye Institute, National Institutes of Health, Bethesda Maryland</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Maryland</region>
</placeName>
<wicri:cityArea>National Eye Institute, National Institutes of Health</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Warman, Berta" sort="Warman, Berta" uniqKey="Warman B" first="Berta" last="Warman">Berta Warman</name>
<affiliation wicri:level="2"><mods:affiliation>Newborn Screening Program, State of Minnesota, Minneapolis, Minnesota</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Newborn Screening Program, State of Minnesota, Minneapolis</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Weleber, Richard G" sort="Weleber, Richard G" uniqKey="Weleber R" first="Richard G." last="Weleber">Richard G. Weleber</name>
<affiliation wicri:level="2"><mods:affiliation>Casey Eye Institute, Department of Ophthalmology and Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Oregon</region>
</placeName>
<wicri:cityArea>Casey Eye Institute, Department of Ophthalmology and Molecular and Medical Genetics, Oregon Health & Science University, Portland</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="White, Susan M" sort="White, Susan M" uniqKey="White S" first="Susan M." last="White">Susan M. White</name>
<affiliation wicri:level="1"><mods:affiliation>Genetic Health Services Victoria and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Australia</mods:affiliation>
<country xml:lang="fr">Australie</country>
<wicri:regionArea>Genetic Health Services Victoria and Murdoch Children's Research Institute, Royal Children's Hospital, Parkville</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Wilson Rackett, Carolyn" sort="Wilson Rackett, Carolyn" uniqKey="Wilson Rackett C" first="Carolyn" last="Wilson-Brackett">Carolyn Wilson-Brackett</name>
<affiliation wicri:level="2"><mods:affiliation>Department of Genetics, Fullerton Genetics Center, Asheville, North Carolina</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Caroline du Nord</region>
</placeName>
<wicri:cityArea>Department of Genetics, Fullerton Genetics Center, Asheville</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Zand, Dina J" sort="Zand, Dina J" uniqKey="Zand D" first="Dina J." last="Zand">Dina J. Zand</name>
<affiliation wicri:level="3"><mods:affiliation>Division of Genetics and Metabolism, Children's National Medical Center, Washington D.C.</mods:affiliation>
<country>États-Unis</country>
<placeName><settlement type="city">Washington (district de Columbia)</settlement>
<region type="state">District de Columbia</region>
</placeName>
<wicri:orgArea>Division of Genetics and Metabolism, Children's National Medical Center</wicri:orgArea>
</affiliation>
</author>
<author><name sortKey="Eccles, Michael" sort="Eccles, Michael" uniqKey="Eccles M" first="Michael" last="Eccles">Michael Eccles</name>
<affiliation wicri:level="1"><mods:affiliation>Developmental Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand</mods:affiliation>
<country xml:lang="fr">Nouvelle-Zélande</country>
<wicri:regionArea>Developmental Genetics Group, Dunedin School of Medicine, University of Otago, Dunedin</wicri:regionArea>
</affiliation>
</author>
<author><name sortKey="Schimmenti, Lisa A" sort="Schimmenti, Lisa A" uniqKey="Schimmenti L" first="Lisa A." last="Schimmenti">Lisa A. Schimmenti</name>
<affiliation wicri:level="2"><mods:affiliation>Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota, Minneapolis Minnesota</mods:affiliation>
<country xml:lang="fr">États-Unis</country>
<placeName><region type="state">Minnesota</region>
</placeName>
<wicri:cityArea>Departments of Pediatrics, Ophthalmology and Genetics, Cell Biology and Development, Developmental Biology Center, Institute of Human Genetics, University of Minnesota</wicri:cityArea>
</affiliation>
</author>
<author><name sortKey="Heidet, Laurence" sort="Heidet, Laurence" uniqKey="Heidet L" first="Laurence" last="Heidet">Laurence Heidet</name>
<affiliation wicri:level="1"><mods:affiliation>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris</wicri:regionArea>
</affiliation>
<affiliation wicri:level="1"><mods:affiliation>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation>
<country xml:lang="fr">France</country>
<wicri:regionArea>APHP, Service de Néphrologie pédiatrique, Hôpital Necker‐Enfants Malades, Paris</wicri:regionArea>
</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">33</biblScope>
<biblScope unit="issue">3</biblScope>
<biblScope unit="page" from="457">457</biblScope>
<biblScope unit="page" to="466">466</biblScope>
<biblScope unit="page-count">10</biblScope>
<publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher>
<pubPlace>Hoboken</pubPlace>
<date type="published" when="2012-03">2012-03</date>
</imprint>
<idno type="ISSN">1059-7794</idno>
</series>
</biblStruct>
</sourceDesc>
<seriesStmt><idno type="ISSN">1059-7794</idno>
</seriesStmt>
</fileDesc>
<profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormality</term>
<term>Allele</term>
<term>Amino</term>
<term>Amino acid</term>
<term>Amino acid level</term>
<term>Amino acids</term>
<term>Anomaly</term>
<term>Cdna</term>
<term>Cdna transcript</term>
<term>Coding region</term>
<term>Codon</term>
<term>Coloboma</term>
<term>Colobomas</term>
<term>Database</term>
<term>Deletion</term>
<term>Dysplasia</term>
<term>Eccles</term>
<term>Exon</term>
<term>Familial mutation</term>
<term>Family history</term>
<term>Frameshift mutations</term>
<term>Gene</term>
<term>Genet</term>
<term>Genetics</term>
<term>Genomic</term>
<term>Germline mosaicism</term>
<term>Hearing loss</term>
<term>Homeodomain</term>
<term>Hopital malades</term>
<term>Hospital boston</term>
<term>Human genetics</term>
<term>Human mutation</term>
<term>Hypoplasia</term>
<term>Independent families</term>
<term>Initiation codon</term>
<term>Intron</term>
<term>Isoform</term>
<term>Journal guidelines</term>
<term>Many patients</term>
<term>Medical genetics</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Missense variations</term>
<term>Mutation</term>
<term>Ndings</term>
<term>Nephrol</term>
<term>Nonsense mutations</term>
<term>Octapeptide</term>
<term>Octapeptide domain</term>
<term>Ocular phenotype</term>
<term>Ophthalmological</term>
<term>Optic</term>
<term>Optic disc</term>
<term>Optic nerve</term>
<term>Optic nerve abnormalities</term>
<term>Optic nerve coloboma</term>
<term>Original report</term>
<term>Papillorenal syndrome</term>
<term>Partial homeodomain</term>
<term>Pathogenic mutations</term>
<term>Pax2</term>
<term>Pax2 expression</term>
<term>Pax2 gene</term>
<term>Pax2 mutation</term>
<term>Pax2 mutations</term>
<term>Pax2 protein</term>
<term>Pediatrics</term>
<term>Phenotype</term>
<term>Present time</term>
<term>Reference sequence</term>
<term>Renal</term>
<term>Renal coloboma syndrome</term>
<term>Renal disease</term>
<term>Renal failure</term>
<term>Renal hypodysplasia</term>
<term>Renal hypoplasia</term>
<term>Renal phenotype</term>
<term>Report supp</term>
<term>Salomon</term>
<term>Sanyanusin</term>
<term>Schimmenti</term>
<term>Splice</term>
<term>Supp</term>
<term>Syndrome</term>
<term>Transactivation</term>
<term>Transactivation domain</term>
<term>Translation initiation codon</term>
<term>Unique mutations</term>
<term>Variable phenotype</term>
<term>Variant</term>
</keywords>
<keywords scheme="Teeft" xml:lang="en"><term>Abnormality</term>
<term>Allele</term>
<term>Amino</term>
<term>Amino acid</term>
<term>Amino acid level</term>
<term>Amino acids</term>
<term>Anomaly</term>
<term>Cdna</term>
<term>Cdna transcript</term>
<term>Coding region</term>
<term>Codon</term>
<term>Coloboma</term>
<term>Colobomas</term>
<term>Database</term>
<term>Deletion</term>
<term>Dysplasia</term>
<term>Eccles</term>
<term>Exon</term>
<term>Familial mutation</term>
<term>Family history</term>
<term>Frameshift mutations</term>
<term>Gene</term>
<term>Genet</term>
<term>Genetics</term>
<term>Genomic</term>
<term>Germline mosaicism</term>
<term>Hearing loss</term>
<term>Homeodomain</term>
<term>Hopital malades</term>
<term>Hospital boston</term>
<term>Human genetics</term>
<term>Human mutation</term>
<term>Hypoplasia</term>
<term>Independent families</term>
<term>Initiation codon</term>
<term>Intron</term>
<term>Isoform</term>
<term>Journal guidelines</term>
<term>Many patients</term>
<term>Medical genetics</term>
<term>Missense</term>
<term>Missense mutations</term>
<term>Missense variations</term>
<term>Mutation</term>
<term>Ndings</term>
<term>Nephrol</term>
<term>Nonsense mutations</term>
<term>Octapeptide</term>
<term>Octapeptide domain</term>
<term>Ocular phenotype</term>
<term>Ophthalmological</term>
<term>Optic</term>
<term>Optic disc</term>
<term>Optic nerve</term>
<term>Optic nerve abnormalities</term>
<term>Optic nerve coloboma</term>
<term>Original report</term>
<term>Papillorenal syndrome</term>
<term>Partial homeodomain</term>
<term>Pathogenic mutations</term>
<term>Pax2</term>
<term>Pax2 expression</term>
<term>Pax2 gene</term>
<term>Pax2 mutation</term>
<term>Pax2 mutations</term>
<term>Pax2 protein</term>
<term>Pediatrics</term>
<term>Phenotype</term>
<term>Present time</term>
<term>Reference sequence</term>
<term>Renal</term>
<term>Renal coloboma syndrome</term>
<term>Renal disease</term>
<term>Renal failure</term>
<term>Renal hypodysplasia</term>
<term>Renal hypoplasia</term>
<term>Renal phenotype</term>
<term>Report supp</term>
<term>Salomon</term>
<term>Sanyanusin</term>
<term>Schimmenti</term>
<term>Splice</term>
<term>Supp</term>
<term>Syndrome</term>
<term>Transactivation</term>
<term>Transactivation domain</term>
<term>Translation initiation codon</term>
<term>Unique mutations</term>
<term>Variable phenotype</term>
<term>Variant</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Base de données</term>
<term>Génétique</term>
</keywords>
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<front><div type="abstract" xml:lang="en">Renal coloboma syndrome, also known as papillorenal syndrome is an autosomal‐dominant disorder characterized by ocular and renal malformations. Mutations in the paired‐box gene, PAX2, have been identified in approximately half of individuals with classic findings of renal hypoplasia/dysplasia and abnormalities of the optic nerve. Prior to 2011, there was no actively maintained locus‐specific database (LSDB) cataloguing the extent of genetic variation in the PAX2 gene and phenotypic variation in individuals with renal coloboma syndrome. Review of published cases and the collective diagnostic experience of three laboratories in the United States, France, and New Zealand identified 55 unique mutations in 173 individuals from 86 families. The three clinical laboratories participating in this collaboration contributed 28 novel variations in 68 individuals in 33 families, which represent a 50% increase in the number of variations, patients, and families published in the medical literature. An LSDB was created using the Leiden Open Variation Database platform: www.lovd.nl/PAX2. The most common findings reported in this series were abnormal renal structure or function (92% of individuals), ophthalmological abnormalities (77% of individuals), and hearing loss (7% of individuals). Additional clinical findings and genetic counseling implications are discussed. Hum Mutat 33:457–466, 2012. © 2011 Wiley Periodicals, Inc.</div>
</front>
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