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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Mutations in the TGFβ Binding-Protein-Like Domain 5 of <italic>FBN1</italic> Are Responsible for Acromicric and Geleophysic Dysplasias</title><author><name sortKey="Le Goff, Carine" sort="Le Goff, Carine" uniqKey="Le Goff C" first="Carine" last="Le Goff">Carine Le Goff</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mahaut, Clementine" sort="Mahaut, Clementine" uniqKey="Mahaut C" first="Clémentine" last="Mahaut">Clémentine Mahaut</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wang, Lauren W" sort="Wang, Lauren W" uniqKey="Wang L" first="Lauren W." last="Wang">Lauren W. Wang</name><affiliation><nlm:aff id="aff2">Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA</nlm:aff></affiliation></author><author><name sortKey="Allali, Slimane" sort="Allali, Slimane" uniqKey="Allali S" first="Slimane" last="Allali">Slimane Allali</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Abhyankar, Avinash" sort="Abhyankar, Avinash" uniqKey="Abhyankar A" first="Avinash" last="Abhyankar">Avinash Abhyankar</name><affiliation><nlm:aff id="aff3">St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff></affiliation></author><author><name sortKey="Jensen, Sacha" sort="Jensen, Sacha" uniqKey="Jensen S" first="Sacha" last="Jensen">Sacha Jensen</name><affiliation><nlm:aff id="aff4">Department of Biochemistry, University of Oxford, South Parks Rd, Oxford OX1 3QU, UK</nlm:aff></affiliation></author><author><name sortKey="Zylberberg, Louise" sort="Zylberberg, Louise" uniqKey="Zylberberg L" first="Louise" last="Zylberberg">Louise Zylberberg</name><affiliation><nlm:aff id="aff5">Centre National de la Récherche Scientifique (CNRS) UMR71 93, Université Pierre et Marie Curie, 75005 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><affiliation><nlm:aff id="aff6">INSERM, U827, 34000 Montpellier, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Université Montpellier 1, UFR Médecine, 34000 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation><nlm:aff id="aff8">Centre de Référence Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants Malades, Université Paris Descartes, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name><affiliation><nlm:aff id="aff9">Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F." last="Brady">Angela F. Brady</name><affiliation><nlm:aff id="aff10">North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ, UK</nlm:aff></affiliation></author><author><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name><affiliation><nlm:aff id="aff11">Service de Génétique, Groupement Hospitalier Est, HFME, 69677 Bron, France</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:aff id="aff12">Center for Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation><nlm:aff id="aff13">Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Kiper, Pelin Zlem Simsek" sort="Kiper, Pelin Zlem Simsek" uniqKey="Kiper P" first="Pelin Zlem Simsek" last="Kiper">Pelin Zlem Simsek Kiper</name><affiliation><nlm:aff id="aff9">Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Kitoh, Hiroshi" sort="Kitoh, Hiroshi" uniqKey="Kitoh H" first="Hiroshi" last="Kitoh">Hiroshi Kitoh</name><affiliation><nlm:aff id="aff14">Department of Orthopaedic Surgery, Nagoya University School of Medicine, Nagoya, Aichi 466-8550, Japan</nlm:aff></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation><nlm:aff id="aff15">Departments of Orthopedic Surgery and Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90068, USA</nlm:aff></affiliation></author><author><name sortKey="Lynch, Sally Ann" sort="Lynch, Sally Ann" uniqKey="Lynch S" first="Sally Ann" last="Lynch">Sally Ann Lynch</name><affiliation><nlm:aff id="aff16">National Centre for Medical Genetics, Our Lady's Childrens Hospital, Crumlin, Dublin 12, Ireland</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbane">André Mégarbane</name><affiliation><nlm:aff id="aff17">Unité de Génétique Médicale, Université Saint Joseph, Beirut 1104 2020, Lebanon</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation><nlm:aff id="aff18">Department of Medical Genetics, Antwerp University and Hospital, 2650 Edegem, Belgium</nlm:aff></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:aff id="aff19">Service de Génétique Clinique, Hôpital Sud, Université Rennes 1, UMR6061, 35200 Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><affiliation><nlm:aff id="aff20">Endocrinologie Gynecologie Diabetologie Pediatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rohrbach, Marianne" sort="Rohrbach, Marianne" uniqKey="Rohrbach M" first="Marianne" last="Rohrbach">Marianne Rohrbach</name><affiliation><nlm:aff id="aff21">Division of Metabolism, Connective Tissue Unit, University Children's Hospital, 8032 Zurich, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><nlm:aff id="aff22">Academic Department of Medical Genetics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Stolte Dijkstra, Irene" sort="Stolte Dijkstra, Irene" uniqKey="Stolte Dijkstra I" first="Irene" last="Stolte-Dijkstra">Irene Stolte-Dijkstra</name><affiliation><nlm:aff id="aff23">Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name><affiliation><nlm:aff id="aff24">Departments of Pediatrics and Human Genetics, University of Lausanne, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff25">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Topouchian, Vicken" sort="Topouchian, Vicken" uniqKey="Topouchian V" first="Vicken" last="Topouchian">Vicken Topouchian</name><affiliation><nlm:aff id="aff26">Department of Pediatric Orthopedic Surgery, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff24">Departments of Pediatrics and Human Genetics, University of Lausanne, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name><affiliation><nlm:aff id="aff27">Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, 79106 Freiburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff28">Plateforme Génomique, Fondation Imagine Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="aff29">Plateforme de Bioinformatique, Université Paris Descartes, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Handford, Penny" sort="Handford, Penny" uniqKey="Handford P" first="Penny" last="Handford">Penny Handford</name><affiliation><nlm:aff id="aff4">Department of Biochemistry, University of Oxford, South Parks Rd, Oxford OX1 3QU, UK</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff3">St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff30">Lab of Human Genetics of Infectious Diseases, Necker branch, University Paris Descartes and INSERM U980, Necker Medical School, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:aff id="aff31">INSERM U698, Bichat Claude Bernard, Université Paris Diderot, and Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, AP-HP, 92100 Boulogne, France</nlm:aff></affiliation></author><author><name sortKey="Apte, Suneel S" sort="Apte, Suneel S" uniqKey="Apte S" first="Suneel S." last="Apte">Suneel S. Apte</name><affiliation><nlm:aff id="aff2">Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA</nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">21683322</idno><idno type="pmc">3135800</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135800</idno><idno type="RBID">PMC:3135800</idno><idno type="doi">10.1016/j.ajhg.2011.05.012</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">001678</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001678</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Mutations in the TGFβ Binding-Protein-Like Domain 5 of <italic>FBN1</italic> Are Responsible for Acromicric and Geleophysic Dysplasias</title><author><name sortKey="Le Goff, Carine" sort="Le Goff, Carine" uniqKey="Le Goff C" first="Carine" last="Le Goff">Carine Le Goff</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Mahaut, Clementine" sort="Mahaut, Clementine" uniqKey="Mahaut C" first="Clémentine" last="Mahaut">Clémentine Mahaut</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Wang, Lauren W" sort="Wang, Lauren W" uniqKey="Wang L" first="Lauren W." last="Wang">Lauren W. Wang</name><affiliation><nlm:aff id="aff2">Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA</nlm:aff></affiliation></author><author><name sortKey="Allali, Slimane" sort="Allali, Slimane" uniqKey="Allali S" first="Slimane" last="Allali">Slimane Allali</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Abhyankar, Avinash" sort="Abhyankar, Avinash" uniqKey="Abhyankar A" first="Avinash" last="Abhyankar">Avinash Abhyankar</name><affiliation><nlm:aff id="aff3">St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff></affiliation></author><author><name sortKey="Jensen, Sacha" sort="Jensen, Sacha" uniqKey="Jensen S" first="Sacha" last="Jensen">Sacha Jensen</name><affiliation><nlm:aff id="aff4">Department of Biochemistry, University of Oxford, South Parks Rd, Oxford OX1 3QU, UK</nlm:aff></affiliation></author><author><name sortKey="Zylberberg, Louise" sort="Zylberberg, Louise" uniqKey="Zylberberg L" first="Louise" last="Zylberberg">Louise Zylberberg</name><affiliation><nlm:aff id="aff5">Centre National de la Récherche Scientifique (CNRS) UMR71 93, Université Pierre et Marie Curie, 75005 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><affiliation><nlm:aff id="aff6">INSERM, U827, 34000 Montpellier, France</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Université Montpellier 1, UFR Médecine, 34000 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation><nlm:aff id="aff8">Centre de Référence Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants Malades, Université Paris Descartes, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name><affiliation><nlm:aff id="aff9">Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F." last="Brady">Angela F. Brady</name><affiliation><nlm:aff id="aff10">North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ, UK</nlm:aff></affiliation></author><author><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name><affiliation><nlm:aff id="aff11">Service de Génétique, Groupement Hospitalier Est, HFME, 69677 Bron, France</nlm:aff></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation><nlm:aff id="aff12">Center for Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium</nlm:aff></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation><nlm:aff id="aff13">Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</nlm:aff></affiliation></author><author><name sortKey="Kiper, Pelin Zlem Simsek" sort="Kiper, Pelin Zlem Simsek" uniqKey="Kiper P" first="Pelin Zlem Simsek" last="Kiper">Pelin Zlem Simsek Kiper</name><affiliation><nlm:aff id="aff9">Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey</nlm:aff></affiliation></author><author><name sortKey="Kitoh, Hiroshi" sort="Kitoh, Hiroshi" uniqKey="Kitoh H" first="Hiroshi" last="Kitoh">Hiroshi Kitoh</name><affiliation><nlm:aff id="aff14">Department of Orthopaedic Surgery, Nagoya University School of Medicine, Nagoya, Aichi 466-8550, Japan</nlm:aff></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation><nlm:aff id="aff15">Departments of Orthopedic Surgery and Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90068, USA</nlm:aff></affiliation></author><author><name sortKey="Lynch, Sally Ann" sort="Lynch, Sally Ann" uniqKey="Lynch S" first="Sally Ann" last="Lynch">Sally Ann Lynch</name><affiliation><nlm:aff id="aff16">National Centre for Medical Genetics, Our Lady's Childrens Hospital, Crumlin, Dublin 12, Ireland</nlm:aff></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Mégarbane">André Mégarbane</name><affiliation><nlm:aff id="aff17">Unité de Génétique Médicale, Université Saint Joseph, Beirut 1104 2020, Lebanon</nlm:aff></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation><nlm:aff id="aff18">Department of Medical Genetics, Antwerp University and Hospital, 2650 Edegem, Belgium</nlm:aff></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation><nlm:aff id="aff19">Service de Génétique Clinique, Hôpital Sud, Université Rennes 1, UMR6061, 35200 Rennes, France</nlm:aff></affiliation></author><author><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><affiliation><nlm:aff id="aff20">Endocrinologie Gynecologie Diabetologie Pediatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Rohrbach, Marianne" sort="Rohrbach, Marianne" uniqKey="Rohrbach M" first="Marianne" last="Rohrbach">Marianne Rohrbach</name><affiliation><nlm:aff id="aff21">Division of Metabolism, Connective Tissue Unit, University Children's Hospital, 8032 Zurich, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><nlm:aff id="aff22">Academic Department of Medical Genetics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia</nlm:aff></affiliation></author><author><name sortKey="Stolte Dijkstra, Irene" sort="Stolte Dijkstra, Irene" uniqKey="Stolte Dijkstra I" first="Irene" last="Stolte-Dijkstra">Irene Stolte-Dijkstra</name><affiliation><nlm:aff id="aff23">Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands</nlm:aff></affiliation></author><author><name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name><affiliation><nlm:aff id="aff24">Departments of Pediatrics and Human Genetics, University of Lausanne, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name><affiliation><nlm:aff id="aff25">Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</nlm:aff></affiliation></author><author><name sortKey="Topouchian, Vicken" sort="Topouchian, Vicken" uniqKey="Topouchian V" first="Vicken" last="Topouchian">Vicken Topouchian</name><affiliation><nlm:aff id="aff26">Department of Pediatric Orthopedic Surgery, Necker Hospital, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation><nlm:aff id="aff24">Departments of Pediatrics and Human Genetics, University of Lausanne, 1015 Lausanne, Switzerland</nlm:aff></affiliation></author><author><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name><affiliation><nlm:aff id="aff27">Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, 79106 Freiburg, Germany</nlm:aff></affiliation></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><affiliation><nlm:aff id="aff28">Plateforme Génomique, Fondation Imagine Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><affiliation><nlm:aff id="aff29">Plateforme de Bioinformatique, Université Paris Descartes, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Handford, Penny" sort="Handford, Penny" uniqKey="Handford P" first="Penny" last="Handford">Penny Handford</name><affiliation><nlm:aff id="aff4">Department of Biochemistry, University of Oxford, South Parks Rd, Oxford OX1 3QU, UK</nlm:aff></affiliation></author><author><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><affiliation><nlm:aff id="aff3">St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</nlm:aff></affiliation><affiliation><nlm:aff id="aff30">Lab of Human Genetics of Infectious Diseases, Necker branch, University Paris Descartes and INSERM U980, Necker Medical School, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><affiliation><nlm:aff id="aff31">INSERM U698, Bichat Claude Bernard, Université Paris Diderot, and Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, AP-HP, 92100 Boulogne, France</nlm:aff></affiliation></author><author><name sortKey="Apte, Suneel S" sort="Apte, Suneel S" uniqKey="Apte S" first="Suneel S." last="Apte">Suneel S. Apte</name><affiliation><nlm:aff id="aff2">Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA</nlm:aff></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><affiliation><nlm:aff id="aff1">Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</nlm:aff></affiliation></author></analytic><series><title level="j">American Journal of Human Genetics</title><idno type="ISSN">0002-9297</idno><idno type="eISSN">1537-6605</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified <italic>ADAMTSL2</italic> mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected <italic>fibrillin 1 (FBN1)</italic> as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. We identified 16 heterozygous <italic>FBN1</italic> mutations that are all located in exons 41 and 42 and encode TGFβ-binding protein-like domain 5 (TB5) of FBN1 in 29 GD and AD cases. Microfibrillar network disorganization and enhanced TGFβ signaling were consistent features in GD and AD fibroblasts. Importantly, a direct interaction between ADAMTSL2 and FBN1 was demonstrated, suggesting a disruption of this interaction as the underlying mechanism of GD and AD phenotypes. Although enhanced TGFβ signaling caused by <italic>FBN1</italic> mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in <italic>FBN1</italic> are responsible for short stature phenotypes.</p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Am J Hum Genet</journal-id><journal-id journal-id-type="iso-abbrev">Am. J. Hum. Genet</journal-id><journal-title-group><journal-title>American Journal of Human Genetics</journal-title></journal-title-group><issn pub-type="ppub">0002-9297</issn><issn pub-type="epub">1537-6605</issn><publisher><publisher-name>Elsevier</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">21683322</article-id><article-id pub-id-type="pmc">3135800</article-id><article-id pub-id-type="publisher-id">S0002-9297(11)00205-9</article-id><article-id pub-id-type="doi">10.1016/j.ajhg.2011.05.012</article-id><article-categories><subj-group subj-group-type="heading"><subject>Article</subject></subj-group></article-categories><title-group><article-title>Mutations in the TGFβ Binding-Protein-Like Domain 5 of <italic>FBN1</italic> Are Responsible for Acromicric and Geleophysic Dysplasias</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Le Goff</surname><given-names>Carine</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Mahaut</surname><given-names>Clémentine</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Wang</surname><given-names>Lauren W.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Allali</surname><given-names>Slimane</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Abhyankar</surname><given-names>Avinash</given-names></name><xref rid="aff3" ref-type="aff">3</xref></contrib><contrib contrib-type="author"><name><surname>Jensen</surname><given-names>Sacha</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Zylberberg</surname><given-names>Louise</given-names></name><xref rid="aff5" ref-type="aff">5</xref></contrib><contrib contrib-type="author"><name><surname>Collod-Beroud</surname><given-names>Gwenaelle</given-names></name><xref rid="aff6" ref-type="aff">6</xref><xref rid="aff7" ref-type="aff">7</xref></contrib><contrib contrib-type="author"><name><surname>Bonnet</surname><given-names>Damien</given-names></name><xref rid="aff8" ref-type="aff">8</xref></contrib><contrib contrib-type="author"><name><surname>Alanay</surname><given-names>Yasemin</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Brady</surname><given-names>Angela F.</given-names></name><xref rid="aff10" ref-type="aff">10</xref></contrib><contrib contrib-type="author"><name><surname>Cordier</surname><given-names>Marie-Pierre</given-names></name><xref rid="aff11" ref-type="aff">11</xref></contrib><contrib contrib-type="author"><name><surname>Devriendt</surname><given-names>Koen</given-names></name><xref rid="aff12" ref-type="aff">12</xref></contrib><contrib contrib-type="author"><name><surname>Genevieve</surname><given-names>David</given-names></name><xref rid="aff13" ref-type="aff">13</xref></contrib><contrib contrib-type="author"><name><surname>Kiper</surname><given-names>Pelin Özlem Simsek</given-names></name><xref rid="aff9" ref-type="aff">9</xref></contrib><contrib contrib-type="author"><name><surname>Kitoh</surname><given-names>Hiroshi</given-names></name><xref rid="aff14" ref-type="aff">14</xref></contrib><contrib contrib-type="author"><name><surname>Krakow</surname><given-names>Deborah</given-names></name><xref rid="aff15" ref-type="aff">15</xref></contrib><contrib contrib-type="author"><name><surname>Lynch</surname><given-names>Sally Ann</given-names></name><xref rid="aff16" ref-type="aff">16</xref></contrib><contrib contrib-type="author"><name><surname>Le Merrer</surname><given-names>Martine</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Mégarbane</surname><given-names>André</given-names></name><xref rid="aff17" ref-type="aff">17</xref></contrib><contrib contrib-type="author"><name><surname>Mortier</surname><given-names>Geert</given-names></name><xref rid="aff18" ref-type="aff">18</xref></contrib><contrib contrib-type="author"><name><surname>Odent</surname><given-names>Sylvie</given-names></name><xref rid="aff19" ref-type="aff">19</xref></contrib><contrib contrib-type="author"><name><surname>Polak</surname><given-names>Michel</given-names></name><xref rid="aff20" ref-type="aff">20</xref></contrib><contrib contrib-type="author"><name><surname>Rohrbach</surname><given-names>Marianne</given-names></name><xref rid="aff21" ref-type="aff">21</xref></contrib><contrib contrib-type="author"><name><surname>Sillence</surname><given-names>David</given-names></name><xref rid="aff22" ref-type="aff">22</xref></contrib><contrib contrib-type="author"><name><surname>Stolte-Dijkstra</surname><given-names>Irene</given-names></name><xref rid="aff23" ref-type="aff">23</xref></contrib><contrib contrib-type="author"><name><surname>Superti-Furga</surname><given-names>Andrea</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Rimoin</surname><given-names>David L.</given-names></name><xref rid="aff25" ref-type="aff">25</xref></contrib><contrib contrib-type="author"><name><surname>Topouchian</surname><given-names>Vicken</given-names></name><xref rid="aff26" ref-type="aff">26</xref></contrib><contrib contrib-type="author"><name><surname>Unger</surname><given-names>Sheila</given-names></name><xref rid="aff24" ref-type="aff">24</xref></contrib><contrib contrib-type="author"><name><surname>Zabel</surname><given-names>Bernhard</given-names></name><xref rid="aff27" ref-type="aff">27</xref></contrib><contrib contrib-type="author"><name><surname>Bole-Feysot</surname><given-names>Christine</given-names></name><xref rid="aff28" ref-type="aff">28</xref></contrib><contrib contrib-type="author"><name><surname>Nitschke</surname><given-names>Patrick</given-names></name><xref rid="aff29" ref-type="aff">29</xref></contrib><contrib contrib-type="author"><name><surname>Handford</surname><given-names>Penny</given-names></name><xref rid="aff4" ref-type="aff">4</xref></contrib><contrib contrib-type="author"><name><surname>Casanova</surname><given-names>Jean-Laurent</given-names></name><xref rid="aff3" ref-type="aff">3</xref><xref rid="aff30" ref-type="aff">30</xref></contrib><contrib contrib-type="author"><name><surname>Boileau</surname><given-names>Catherine</given-names></name><xref rid="aff31" ref-type="aff">31</xref></contrib><contrib contrib-type="author"><name><surname>Apte</surname><given-names>Suneel S.</given-names></name><xref rid="aff2" ref-type="aff">2</xref></contrib><contrib contrib-type="author"><name><surname>Munnich</surname><given-names>Arnold</given-names></name><xref rid="aff1" ref-type="aff">1</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valérie</given-names></name><email>valerie.cormier-daire@inserm.fr</email><xref rid="aff1" ref-type="aff">1</xref><xref rid="cor1" ref-type="corresp">∗</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Department of Genetics, Université Paris Descartes, Unité Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades, 75015 Paris, France</aff><aff id="aff2"><label>2</label>Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA</aff><aff id="aff3"><label>3</label>St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA</aff><aff id="aff4"><label>4</label>Department of Biochemistry, University of Oxford, South Parks Rd, Oxford OX1 3QU, UK</aff><aff id="aff5"><label>5</label>Centre National de la Récherche Scientifique (CNRS) UMR71 93, Université Pierre et Marie Curie, 75005 Paris, France</aff><aff id="aff6"><label>6</label>INSERM, U827, 34000 Montpellier, France</aff><aff id="aff7"><label>7</label>Université Montpellier 1, UFR Médecine, 34000 Montpellier, France</aff><aff id="aff8"><label>8</label>Centre de Référence Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants Malades, Université Paris Descartes, 75015 Paris, France</aff><aff id="aff9"><label>9</label>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine, 06100 Ankara, Turkey</aff><aff id="aff10"><label>10</label>North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ, UK</aff><aff id="aff11"><label>11</label>Service de Génétique, Groupement Hospitalier Est, HFME, 69677 Bron, France</aff><aff id="aff12"><label>12</label>Center for Human Genetics, Catholic University of Leuven, 3000 Leuven, Belgium</aff><aff id="aff13"><label>13</label>Department of Medical Genetics, Université Montpellier 1, INSERM U844, 34000 Montpellier, France</aff><aff id="aff14"><label>14</label>Department of Orthopaedic Surgery, Nagoya University School of Medicine, Nagoya, Aichi 466-8550, Japan</aff><aff id="aff15"><label>15</label>Departments of Orthopedic Surgery and Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles, CA 90068, USA</aff><aff id="aff16"><label>16</label>National Centre for Medical Genetics, Our Lady's Childrens Hospital, Crumlin, Dublin 12, Ireland</aff><aff id="aff17"><label>17</label>Unité de Génétique Médicale, Université Saint Joseph, Beirut 1104 2020, Lebanon</aff><aff id="aff18"><label>18</label>Department of Medical Genetics, Antwerp University and Hospital, 2650 Edegem, Belgium</aff><aff id="aff19"><label>19</label>Service de Génétique Clinique, Hôpital Sud, Université Rennes 1, UMR6061, 35200 Rennes, France</aff><aff id="aff20"><label>20</label>Endocrinologie Gynecologie Diabetologie Pediatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Hôpital Necker Enfants Malades, 75015 Paris, France</aff><aff id="aff21"><label>21</label>Division of Metabolism, Connective Tissue Unit, University Children's Hospital, 8032 Zurich, Switzerland</aff><aff id="aff22"><label>22</label>Academic Department of Medical Genetics, The Children's Hospital at Westmead, Westmead, NSW 2145, Australia</aff><aff id="aff23"><label>23</label>Department of Genetics, University Medical Center Groningen, University of Groningen, 9713 GZ Groningen, The Netherlands</aff><aff id="aff24"><label>24</label>Departments of Pediatrics and Human Genetics, University of Lausanne, 1015 Lausanne, Switzerland</aff><aff id="aff25"><label>25</label>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA</aff><aff id="aff26"><label>26</label>Department of Pediatric Orthopedic Surgery, Necker Hospital, 75015 Paris, France</aff><aff id="aff27"><label>27</label>Centre for Pediatrics and Adolescent Medicine, Freiburg University Hospital, University of Freiburg, 79106 Freiburg, Germany</aff><aff id="aff28"><label>28</label>Plateforme Génomique, Fondation Imagine Hôpital Necker Enfants Malades, 75015 Paris, France</aff><aff id="aff29"><label>29</label>Plateforme de Bioinformatique, Université Paris Descartes, 75015 Paris, France</aff><aff id="aff30"><label>30</label>Lab of Human Genetics of Infectious Diseases, Necker branch, University Paris Descartes and INSERM U980, Necker Medical School, 75015 Paris, France</aff><aff id="aff31"><label>31</label>INSERM U698, Bichat Claude Bernard, Université Paris Diderot, and Laboratoire de Biochimie et de Génétique Moléculaire, Hôpital Ambroise Paré, AP-HP, 92100 Boulogne, France</aff><author-notes><corresp id="cor1"><label>∗</label>Corresponding author <email>valerie.cormier-daire@inserm.fr</email></corresp></author-notes><pub-date pub-type="ppub"><day>15</day><month>7</month><year>2011</year></pub-date><volume>89</volume><issue>1</issue><fpage>7</fpage><lpage>14</lpage><history><date date-type="received"><day>6</day><month>4</month><year>2011</year></date><date date-type="rev-recd"><day>10</day><month>5</month><year>2011</year></date><date date-type="accepted"><day>12</day><month>5</month><year>2011</year></date></history><permissions><copyright-statement>© 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved.</copyright-statement><copyright-year>2011</copyright-year><copyright-holder>The American Society of Human Genetics</copyright-holder></permissions><abstract><p>Geleophysic (GD) and acromicric dysplasia (AD) belong to the acromelic dysplasia group and are both characterized by severe short stature, short extremities, and stiff joints. Although AD has an unknown molecular basis, we have previously identified <italic>ADAMTSL2</italic> mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected <italic>fibrillin 1 (FBN1)</italic> as a candidate gene, even though mutations in this gene have been described in Marfan syndrome, which is characterized by tall stature and arachnodactyly. We identified 16 heterozygous <italic>FBN1</italic> mutations that are all located in exons 41 and 42 and encode TGFβ-binding protein-like domain 5 (TB5) of FBN1 in 29 GD and AD cases. Microfibrillar network disorganization and enhanced TGFβ signaling were consistent features in GD and AD fibroblasts. Importantly, a direct interaction between ADAMTSL2 and FBN1 was demonstrated, suggesting a disruption of this interaction as the underlying mechanism of GD and AD phenotypes. Although enhanced TGFβ signaling caused by <italic>FBN1</italic> mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in <italic>FBN1</italic> are responsible for short stature phenotypes.</p></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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