Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Identifieur interne : 006900 ( Main/Exploration ); précédent : 006899; suivant : 006901Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
Auteurs : Carine Le Goff [France] ; Clementine Mahaut [France] ; Lauren W. Wang [États-Unis] ; Slimane Allali [France] ; Avinash Abhyankar [États-Unis] ; Sacha Jensen [Royaume-Uni] ; Louise Zylberberg [France] ; Gwenaelle Collod-Beroud [France] ; Damien Bonnet [France] ; Yasemin Alanay [Turquie] ; Angela F. Brady [Royaume-Uni] ; Marie-Pierre Cordier [France] ; Koen Devriendt [Belgique] ; David Genevieve [France] ; Pelin Ozlem Simsek Kiper [Turquie] ; Hiroshi Kitoh [Japon] ; Deborah Krakow [États-Unis] ; Sally Ann Lynch [Irlande (pays)] ; Martine Le Merrer [France] ; André Megarbane [Liban] ; Geert Mortier [Belgique] ; Sylvie Odent [France] ; Michel Polak [France] ; Marianne Rohrbach [Suisse] ; David Sillence [Australie] ; Irene Stolte-Dijkstra [Pays-Bas] ; Andrea Superti-Furga [Suisse] ; David L. Rimoin [États-Unis] ; Vicken Topouchian ; Sheila Unger [Suisse] ; Bernhard Zabel ; Christine Bole-Feysot ; Patrick Nitschke ; Penny Handford [Royaume-Uni] ; Jean-Laurent Casanova [États-Unis] ; Catherine Boileau ; Suneel S. Apte [États-Unis] ; Arnold Munnich [France] ; Valérie Cormier-Daire [France]Source :
- American journal of human genetics [ 0002-9297 ] ; 2011.
Descripteurs français
- Pascal (Inist)
- Wicri :
English descriptors
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Abstract
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 ADAMTSL2 mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) 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 FBN1 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 FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.
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Affiliations:
- Australie, Belgique, France, Irlande (pays), Japon, Liban, Pays-Bas, Royaume-Uni, Suisse, Turquie, États-Unis
- Angleterre, Auvergne-Rhône-Alpes, Californie, Canton de Vaud, Groningue (province), Languedoc-Roussillon, Occitanie (région administrative), Oxfordshire, Province du Brabant flamand, Rhône-Alpes, Région Bretagne, Île-de-France
- Bron, Groningue (ville), Lausanne, Los Angeles, Louvain, Montpellier, Oxford, Paris, Rennes
- Université Montpellier 1, Université Paris-Descartes, Université Pierre-et-Marie-Curie, Université d'Oxford, Université de Groningue
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Le document en format XML
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Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>INSERM, U827</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Université Montpellier 1, UFR Medecine</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Centre de Reference Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants Malades, Universite Paris Descartes</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine</s1><s2>06100 Ankara</s2><s3>TUR</s3><sZ>10 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Turquie</country><wicri:noRegion>06100 Ankara</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="10"><s1>North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ</s1><s3>GBR</s3><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="11"><s1>Service de Génétique, Groupement Hospitalier Est, HFME</s1><s2>69677 Bron</s2><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Bron</settlement></placeName></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Center for Human Genetics, Catholic University of Leuven</s1><s2>3000 Leuven</s2><s3>BEL</s3><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Department of Medical Genetics, Université Montpellier 1, INSERM U844</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>34000 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" 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aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Nagoya, Aichi 466-8550</wicri:noRegion></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Departments of Orthopedic Surgery and Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles</s1><s2>CA 90068</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></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 wicri:level="1"><inist:fA14 i1="16"><s1>National Centre for Medical Genetics, Our Lady's Childrens Hospital</s1><s2>Crumlin, Dublin 12</s2><s3>IRL</s3><sZ>18 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Crumlin, Dublin 12</wicri:noRegion></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 wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Megarbane">André Megarbane</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Unité de Génétique Médicale, Universite Saint Joseph</s1><s2>Beirut 1104 2020</s2><s3>LBN</s3><sZ>20 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut 1104 2020</wicri:noRegion></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Medical Genetics, Antwerp University and Hospital</s1><s2>2650 Edegem</s2><s3>BEL</s3><sZ>21 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>2650 Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Service de G6n6tique Clinique, Hôpital Sud, Université Rennes 1, UMR6061</s1><s2>35200 Rennes</s2><s3>FRA</s3><sZ>22 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><affiliation wicri:level="4"><inist:fA14 i1="20"><s1>Endocrinologie Gynecologie Diabetologie Pediatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>23 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Rohrbach, Marianne" sort="Rohrbach, Marianne" uniqKey="Rohrbach M" first="Marianne" last="Rohrbach">Marianne Rohrbach</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>Division of Metabolism, Connective Tissue Unit, University Children's Hospital</s1><s2>8032 Zurich</s2><s3>CHE</s3><sZ>24 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>8032 Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>Academic Department of Medical Genetics, The Children's Hospital at Westmead, Westmead</s1><s2>NSW 2145</s2><s3>AUS</s3><sZ>25 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>NSW 2145</wicri:noRegion></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 wicri:level="4"><inist:fA14 i1="23"><s1>Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>9713 GZ Groningen</s2><s3>NLD</s3><sZ>26 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue (ville)</settlement><region>Groningue (province)</region></placeName><orgName type="university">Université de Groningue</orgName></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 wicri:level="1"><inist:fA14 i1="24"><s1>Departments of Pediatrics and Human Genetics, University of Lausanne</s1><s2>1015 Lausanne</s2><s3>CHE</s3><sZ>27 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></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 wicri:level="3"><inist:fA14 i1="25"><s1>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles</s1><s2>CA 90048</s2><s3>USA</s3><sZ>28 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Topouchian, Vicken" sort="Topouchian, Vicken" uniqKey="Topouchian V" first="Vicken" last="Topouchian">Vicken Topouchian</name></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Departments of Pediatrics and Human Genetics, University of Lausanne</s1><s2>1015 Lausanne</s2><s3>CHE</s3><sZ>27 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name></author><author><name sortKey="Handford, Penny" sort="Handford, Penny" uniqKey="Handford P" first="Penny" last="Handford">Penny Handford</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry, University of Oxford, South Parks Rd</s1><s2>Oxford OX1 3QU</s2><s3>GBR</s3><sZ>6 aut.</sZ><sZ>34 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Oxford OX1 3QU</wicri:noRegion><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></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 wicri:level="1"><inist:fA14 i1="03"><s1>St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</s1><s2>New York, NY 10065</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>35 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY 10065</wicri:noRegion></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name></author><author><name sortKey="Apte, Suneel S" sort="Apte, Suneel S" uniqKey="Apte S" first="Suneel S." last="Apte">Suneel S. Apte</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio 44195</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>37 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, Ohio 44195</wicri:noRegion></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></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 wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">11-0353113</idno><date when="2011">2011</date><idno type="stanalyst">PASCAL 11-0353113 INIST</idno><idno type="RBID">Pascal:11-0353113</idno><idno type="wicri:Area/PascalFrancis/Corpus">001A69</idno><idno type="wicri:Area/PascalFrancis/Curation">004475</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">001871</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">001871</idno><idno type="wicri:doubleKey">0002-9297:2011:Le Goff C:mutations:in:the</idno><idno type="wicri:Area/Main/Merge">006D22</idno><idno type="wicri:source">PMC</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3135800</idno><idno type="RBID">PMC:3135800</idno><idno type="wicri:Area/Pmc/Corpus">001678</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001678</idno><idno type="wicri:Area/Pmc/Curation">001538</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">001538</idno><idno type="wicri:Area/Pmc/Checkpoint">002228</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Checkpoint">002228</idno><idno type="wicri:Area/Ncbi/Merge">000A92</idno><idno type="wicri:Area/Ncbi/Curation">000A92</idno><idno type="wicri:Area/Ncbi/Checkpoint">000A92</idno><idno type="wicri:doubleKey">0002-9297:2011:Le Goff C:mutations:in:the</idno><idno type="wicri:Area/Main/Merge">006426</idno><idno type="wicri:Area/Main/Curation">006900</idno><idno type="wicri:Area/Main/Exploration">006900</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 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 wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Mahaut, Clementine" sort="Mahaut, Clementine" uniqKey="Mahaut C" first="Clementine" last="Mahaut">Clementine Mahaut</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></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 wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio 44195</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>37 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, Ohio 44195</wicri:noRegion></affiliation></author><author><name sortKey="Allali, Slimane" sort="Allali, Slimane" uniqKey="Allali S" first="Slimane" last="Allali">Slimane Allali</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75015 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Abhyankar, Avinash" sort="Abhyankar, Avinash" uniqKey="Abhyankar A" first="Avinash" last="Abhyankar">Avinash Abhyankar</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</s1><s2>New York, NY 10065</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>35 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY 10065</wicri:noRegion></affiliation></author><author><name sortKey="Jensen, Sacha" sort="Jensen, Sacha" uniqKey="Jensen S" first="Sacha" last="Jensen">Sacha Jensen</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry, University of Oxford, South Parks Rd</s1><s2>Oxford OX1 3QU</s2><s3>GBR</s3><sZ>6 aut.</sZ><sZ>34 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Oxford OX1 3QU</wicri:noRegion><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></affiliation></author><author><name sortKey="Zylberberg, Louise" sort="Zylberberg, Louise" uniqKey="Zylberberg L" first="Louise" last="Zylberberg">Louise Zylberberg</name><affiliation wicri:level="4"><inist:fA14 i1="05"><s1>Centre National de la Recherche Scientifique (CNRS) UMR71 93, Université Pierre et Marie Curie</s1><s2>75005 Paris</s2><s3>FRA</s3><sZ>7 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>75005 Paris</wicri:noRegion><placeName><settlement type="city">Paris</settlement><region type="région" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Pierre-et-Marie-Curie</orgName></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 wicri:level="3"><inist:fA14 i1="06"><s1>INSERM, U827</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation><affiliation wicri:level="4"><inist:fA14 i1="07"><s1>Université Montpellier 1, UFR Medecine</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName></affiliation></author><author><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><affiliation wicri:level="4"><inist:fA14 i1="08"><s1>Centre de Reference Malformations Cardiaques Congénitales Complexes-M3C, Hôpital Necker-Enfants Malades, Universite Paris Descartes</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>9 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine</s1><s2>06100 Ankara</s2><s3>TUR</s3><sZ>10 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Turquie</country><wicri:noRegion>06100 Ankara</wicri:noRegion></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 wicri:level="1"><inist:fA14 i1="10"><s1>North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ</s1><s3>GBR</s3><sZ>11 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>North West Thames Regional Genetics, Northwick Park Hospital, Harrow HA1 3UJ</wicri:noRegion></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 wicri:level="3"><inist:fA14 i1="11"><s1>Service de Génétique, Groupement Hospitalier Est, HFME</s1><s2>69677 Bron</s2><s3>FRA</s3><sZ>12 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Auvergne-Rhône-Alpes</region><region type="old region" nuts="2">Rhône-Alpes</region><settlement type="city">Bron</settlement></placeName></affiliation></author><author><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Center for Human Genetics, Catholic University of Leuven</s1><s2>3000 Leuven</s2><s3>BEL</s3><sZ>13 aut.</sZ></inist:fA14><country>Belgique</country><placeName><region type="province" nuts="2">Province du Brabant flamand</region><settlement type="city">Louvain</settlement></placeName></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><affiliation wicri:level="4"><inist:fA14 i1="13"><s1>Department of Medical Genetics, Université Montpellier 1, INSERM U844</s1><s2>34000 Montpellier</s2><s3>FRA</s3><sZ>14 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>34000 Montpellier</wicri:noRegion><placeName><settlement type="city">Montpellier</settlement><region type="region" nuts="2">Occitanie (région administrative)</region><region type="old region" nuts="2">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName><orgName type="university">Université Montpellier 1</orgName></affiliation></author><author><name sortKey="Ozlem Simsek Kiper, Pelin" sort="Ozlem Simsek Kiper, Pelin" uniqKey="Ozlem Simsek Kiper P" first="Pelin" last="Ozlem Simsek Kiper">Pelin Ozlem Simsek Kiper</name><affiliation wicri:level="1"><inist:fA14 i1="09"><s1>Pediatric Genetics Unit, Department of Pediatrics, Hacettepe University Faculty of Medicine</s1><s2>06100 Ankara</s2><s3>TUR</s3><sZ>10 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>Turquie</country><wicri:noRegion>06100 Ankara</wicri:noRegion></affiliation></author><author><name sortKey="Kitoh, Hiroshi" sort="Kitoh, Hiroshi" uniqKey="Kitoh H" first="Hiroshi" last="Kitoh">Hiroshi Kitoh</name><affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Department of Orthopaedic Surgery, Nagoya University School of Medicine</s1><s2>Nagoya, Aichi 466-8550</s2><s3>JPN</s3><sZ>16 aut.</sZ></inist:fA14><country>Japon</country><wicri:noRegion>Nagoya, Aichi 466-8550</wicri:noRegion></affiliation></author><author><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Departments of Orthopedic Surgery and Human Genetics, David Geffen School of Medicine at University of California, Los Angeles, Los Angeles</s1><s2>CA 90068</s2><s3>USA</s3><sZ>17 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></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 wicri:level="1"><inist:fA14 i1="16"><s1>National Centre for Medical Genetics, Our Lady's Childrens Hospital</s1><s2>Crumlin, Dublin 12</s2><s3>IRL</s3><sZ>18 aut.</sZ></inist:fA14><country>Irlande (pays)</country><wicri:noRegion>Crumlin, Dublin 12</wicri:noRegion></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 wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Megarbane">André Megarbane</name><affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Unité de Génétique Médicale, Universite Saint Joseph</s1><s2>Beirut 1104 2020</s2><s3>LBN</s3><sZ>20 aut.</sZ></inist:fA14><country>Liban</country><wicri:noRegion>Beirut 1104 2020</wicri:noRegion></affiliation></author><author><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name><affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Department of Medical Genetics, Antwerp University and Hospital</s1><s2>2650 Edegem</s2><s3>BEL</s3><sZ>21 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>2650 Edegem</wicri:noRegion></affiliation></author><author><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><affiliation wicri:level="3"><inist:fA14 i1="19"><s1>Service de G6n6tique Clinique, Hôpital Sud, Université Rennes 1, UMR6061</s1><s2>35200 Rennes</s2><s3>FRA</s3><sZ>22 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Région Bretagne</region><settlement type="city">Rennes</settlement></placeName></affiliation></author><author><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><affiliation wicri:level="4"><inist:fA14 i1="20"><s1>Endocrinologie Gynecologie Diabetologie Pediatrique, Assistance Publique-Hôpitaux de Paris, Université Paris Descartes, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>23 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Rohrbach, Marianne" sort="Rohrbach, Marianne" uniqKey="Rohrbach M" first="Marianne" last="Rohrbach">Marianne Rohrbach</name><affiliation wicri:level="1"><inist:fA14 i1="21"><s1>Division of Metabolism, Connective Tissue Unit, University Children's Hospital</s1><s2>8032 Zurich</s2><s3>CHE</s3><sZ>24 aut.</sZ></inist:fA14><country>Suisse</country><wicri:noRegion>8032 Zurich</wicri:noRegion></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation wicri:level="1"><inist:fA14 i1="22"><s1>Academic Department of Medical Genetics, The Children's Hospital at Westmead, Westmead</s1><s2>NSW 2145</s2><s3>AUS</s3><sZ>25 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>NSW 2145</wicri:noRegion></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 wicri:level="4"><inist:fA14 i1="23"><s1>Department of Genetics, University Medical Center Groningen, University of Groningen</s1><s2>9713 GZ Groningen</s2><s3>NLD</s3><sZ>26 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Groningue (ville)</settlement><region>Groningue (province)</region></placeName><orgName type="university">Université de Groningue</orgName></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 wicri:level="1"><inist:fA14 i1="24"><s1>Departments of Pediatrics and Human Genetics, University of Lausanne</s1><s2>1015 Lausanne</s2><s3>CHE</s3><sZ>27 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></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 wicri:level="3"><inist:fA14 i1="25"><s1>Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles</s1><s2>CA 90048</s2><s3>USA</s3><sZ>28 aut.</sZ></inist:fA14><country>États-Unis</country><placeName><settlement type="city">Los Angeles</settlement><region type="state">Californie</region></placeName></affiliation></author><author><name sortKey="Topouchian, Vicken" sort="Topouchian, Vicken" uniqKey="Topouchian V" first="Vicken" last="Topouchian">Vicken Topouchian</name></author><author><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name><affiliation wicri:level="1"><inist:fA14 i1="24"><s1>Departments of Pediatrics and Human Genetics, University of Lausanne</s1><s2>1015 Lausanne</s2><s3>CHE</s3><sZ>27 aut.</sZ><sZ>30 aut.</sZ></inist:fA14><country>Suisse</country><placeName><settlement type="city">Lausanne</settlement><region nuts="3" type="region">Canton de Vaud</region></placeName></affiliation></author><author><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name></author><author><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name></author><author><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name></author><author><name sortKey="Handford, Penny" sort="Handford, Penny" uniqKey="Handford P" first="Penny" last="Handford">Penny Handford</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Biochemistry, University of Oxford, South Parks Rd</s1><s2>Oxford OX1 3QU</s2><s3>GBR</s3><sZ>6 aut.</sZ><sZ>34 aut.</sZ></inist:fA14><country>Royaume-Uni</country><wicri:noRegion>Oxford OX1 3QU</wicri:noRegion><orgName type="university">Université d'Oxford</orgName><placeName><settlement type="city">Oxford</settlement><region type="nation">Angleterre</region><region type="région" nuts="1">Oxfordshire</region></placeName></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 wicri:level="1"><inist:fA14 i1="03"><s1>St. Giles Lab of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University</s1><s2>New York, NY 10065</s2><s3>USA</s3><sZ>5 aut.</sZ><sZ>35 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>New York, NY 10065</wicri:noRegion></affiliation></author><author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name></author><author><name sortKey="Apte, Suneel S" sort="Apte, Suneel S" uniqKey="Apte S" first="Suneel S." last="Apte">Suneel S. Apte</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Biomedical Engineering, Lerner Research Institute, Cleveland Clinic Foundation</s1><s2>Cleveland, Ohio 44195</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>37 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Cleveland, Ohio 44195</wicri:noRegion></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></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 wicri:level="4"><inist:fA14 i1="01"><s1>Department of Genetics, Universite Paris Descartes, Unite Institut National de la Sante et de la Recherche Médicale (INSERM) U781, Hôpital Necker Enfants Malades</s1><s2>75015 Paris</s2><s3>FRA</s3><sZ>1 aut.</sZ><sZ>2 aut.</sZ><sZ>4 aut.</sZ><sZ>19 aut.</sZ><sZ>38 aut.</sZ><sZ>39 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region" nuts="2">Île-de-France</region><settlement type="city">Paris</settlement><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author></analytic><series><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">American journal of human genetics</title><title level="j" type="abbreviated">Am. j. hum. genet.</title><idno type="ISSN">0002-9297</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Binding protein</term><term>Dysplasia</term><term>Genetics</term><term>Human</term><term>Mutation</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Dysplasie</term><term>Mutation</term><term>Protéine liaison</term><term>Génétique</term><term>Homme</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term><term>Homme</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">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 ADAMTSL2 mutations in a subset of GD patients. After exome sequencing in GD and AD cases, we selected fibrillin 1 (FBN1) 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 FBN1 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 FBN1 mutations can trigger either Marfan syndrome or GD and AD, our findings support the fact that TB5 mutations in FBN1 are responsible for short stature phenotypes.</div></front></TEI><affiliations><list><country><li>Australie</li><li>Belgique</li><li>France</li><li>Irlande (pays)</li><li>Japon</li><li>Liban</li><li>Pays-Bas</li><li>Royaume-Uni</li><li>Suisse</li><li>Turquie</li><li>États-Unis</li></country><region><li>Angleterre</li><li>Auvergne-Rhône-Alpes</li><li>Californie</li><li>Canton de Vaud</li><li>Groningue (province)</li><li>Languedoc-Roussillon</li><li>Occitanie (région administrative)</li><li>Oxfordshire</li><li>Province du Brabant flamand</li><li>Rhône-Alpes</li><li>Région Bretagne</li><li>Île-de-France</li></region><settlement><li>Bron</li><li>Groningue (ville)</li><li>Lausanne</li><li>Los Angeles</li><li>Louvain</li><li>Montpellier</li><li>Oxford</li><li>Paris</li><li>Rennes</li></settlement><orgName><li>Université Montpellier 1</li><li>Université Paris-Descartes</li><li>Université Pierre-et-Marie-Curie</li><li>Université d'Oxford</li><li>Université de Groningue</li></orgName></list><tree><noCountry><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name><name sortKey="Bole Feysot, Christine" sort="Bole Feysot, Christine" uniqKey="Bole Feysot C" first="Christine" last="Bole-Feysot">Christine Bole-Feysot</name><name sortKey="Nitschke, Patrick" sort="Nitschke, Patrick" uniqKey="Nitschke P" first="Patrick" last="Nitschke">Patrick Nitschke</name><name sortKey="Topouchian, Vicken" sort="Topouchian, Vicken" uniqKey="Topouchian V" first="Vicken" last="Topouchian">Vicken Topouchian</name><name sortKey="Zabel, Bernhard" sort="Zabel, Bernhard" uniqKey="Zabel B" first="Bernhard" last="Zabel">Bernhard Zabel</name></noCountry><country name="France"><region name="Île-de-France"><name sortKey="Le Goff, Carine" sort="Le Goff, Carine" uniqKey="Le Goff C" first="Carine" last="Le Goff">Carine Le Goff</name></region><name sortKey="Allali, Slimane" sort="Allali, Slimane" uniqKey="Allali S" first="Slimane" last="Allali">Slimane Allali</name><name sortKey="Bonnet, Damien" sort="Bonnet, Damien" uniqKey="Bonnet D" first="Damien" last="Bonnet">Damien Bonnet</name><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name><name sortKey="Cordier, Marie Pierre" sort="Cordier, Marie Pierre" uniqKey="Cordier M" first="Marie-Pierre" last="Cordier">Marie-Pierre Cordier</name><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Genevieve">David Genevieve</name><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><name sortKey="Mahaut, Clementine" sort="Mahaut, Clementine" uniqKey="Mahaut C" first="Clementine" last="Mahaut">Clementine Mahaut</name><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><name sortKey="Odent, Sylvie" sort="Odent, Sylvie" uniqKey="Odent S" first="Sylvie" last="Odent">Sylvie Odent</name><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><name sortKey="Zylberberg, Louise" sort="Zylberberg, Louise" uniqKey="Zylberberg L" first="Louise" last="Zylberberg">Louise Zylberberg</name></country><country name="États-Unis"><noRegion><name sortKey="Wang, Lauren W" sort="Wang, Lauren W" uniqKey="Wang L" first="Lauren W." last="Wang">Lauren W. Wang</name></noRegion><name sortKey="Abhyankar, Avinash" sort="Abhyankar, Avinash" uniqKey="Abhyankar A" first="Avinash" last="Abhyankar">Avinash Abhyankar</name><name sortKey="Apte, Suneel S" sort="Apte, Suneel S" uniqKey="Apte S" first="Suneel S." last="Apte">Suneel S. Apte</name><name sortKey="Casanova, Jean Laurent" sort="Casanova, Jean Laurent" uniqKey="Casanova J" first="Jean-Laurent" last="Casanova">Jean-Laurent Casanova</name><name sortKey="Krakow, Deborah" sort="Krakow, Deborah" uniqKey="Krakow D" first="Deborah" last="Krakow">Deborah Krakow</name><name sortKey="Rimoin, David L" sort="Rimoin, David L" uniqKey="Rimoin D" first="David L." last="Rimoin">David L. Rimoin</name></country><country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Jensen, Sacha" sort="Jensen, Sacha" uniqKey="Jensen S" first="Sacha" last="Jensen">Sacha Jensen</name></region><name sortKey="Brady, Angela F" sort="Brady, Angela F" uniqKey="Brady A" first="Angela F." last="Brady">Angela F. Brady</name><name sortKey="Handford, Penny" sort="Handford, Penny" uniqKey="Handford P" first="Penny" last="Handford">Penny Handford</name></country><country name="Turquie"><noRegion><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name></noRegion><name sortKey="Ozlem Simsek Kiper, Pelin" sort="Ozlem Simsek Kiper, Pelin" uniqKey="Ozlem Simsek Kiper P" first="Pelin" last="Ozlem Simsek Kiper">Pelin Ozlem Simsek Kiper</name></country><country name="Belgique"><region name="Province du Brabant flamand"><name sortKey="Devriendt, Koen" sort="Devriendt, Koen" uniqKey="Devriendt K" first="Koen" last="Devriendt">Koen Devriendt</name></region><name sortKey="Mortier, Geert" sort="Mortier, Geert" uniqKey="Mortier G" first="Geert" last="Mortier">Geert Mortier</name></country><country name="Japon"><noRegion><name sortKey="Kitoh, Hiroshi" sort="Kitoh, Hiroshi" uniqKey="Kitoh H" first="Hiroshi" last="Kitoh">Hiroshi Kitoh</name></noRegion></country><country name="Irlande (pays)"><noRegion><name sortKey="Lynch, Sally Ann" sort="Lynch, Sally Ann" uniqKey="Lynch S" first="Sally Ann" last="Lynch">Sally Ann Lynch</name></noRegion></country><country name="Liban"><noRegion><name sortKey="Megarbane, Andre" sort="Megarbane, Andre" uniqKey="Megarbane A" first="André" last="Megarbane">André Megarbane</name></noRegion></country><country name="Suisse"><noRegion><name sortKey="Rohrbach, Marianne" sort="Rohrbach, Marianne" uniqKey="Rohrbach M" first="Marianne" last="Rohrbach">Marianne Rohrbach</name></noRegion><name sortKey="Superti Furga, Andrea" sort="Superti Furga, Andrea" uniqKey="Superti Furga A" first="Andrea" last="Superti-Furga">Andrea Superti-Furga</name><name sortKey="Unger, Sheila" sort="Unger, Sheila" uniqKey="Unger S" first="Sheila" last="Unger">Sheila Unger</name></country><country name="Australie"><noRegion><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name></noRegion></country><country name="Pays-Bas"><region name="Groningue (province)"><name sortKey="Stolte Dijkstra, Irene" sort="Stolte Dijkstra, Irene" uniqKey="Stolte Dijkstra I" first="Irene" last="Stolte-Dijkstra">Irene Stolte-Dijkstra</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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|texte= Mutations in the TGFβ Binding-Protein-Like Domain 5 of FBN1 Are Responsible for Acromicric and Geleophysic Dysplasias
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