In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Identifieur interne : 005B47 ( Main/Exploration ); précédent : 005B46; suivant : 005B48In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome
Auteurs : Virginie Carmignac [France] ; Julien Thevenon [France] ; Lesley Ades [Australie] ; Bert Callewaert [Belgique] ; Sophie Julia [France] ; Christel Thauvin-Robinet [France] ; Lucie Gueneau [France] ; Jean-Benoit Courcet [France] ; Estelle Lopez [France] ; Katherine Holman [Australie] ; Marjolijn Renard [Belgique] ; Henri Plauchu [France] ; Ghislaine Plessis [France] ; Julie De Backer [Belgique] ; Anne Child [Royaume-Uni] ; Gavin Arno [Royaume-Uni] ; Laurence Duplomb [France] ; Patrick Callier [France] ; Bernard Aral [France] ; Pierre Vabres [France] ; Nadege Gigot [France] ; Eloisa Arbustini [Italie] ; Maurizia Grasso [Italie] ; Peter N. Robinson [Allemagne] ; Cyril Goizet [France] ; Clarisse Baumann [France] ; Maja Di Rocco [Italie] ; Jaime Sanchez Del Pozo [Espagne] ; Frédéric Huet [France] ; Guillaume Jondeau [France] ; Gwenaelle Collod-Beroud [France] ; Christophe Beroud [France] ; Jeanne Amiel [France] ; Valérie Cormier-Daire [France] ; Jean-Baptiste Riviere [France] ; Catherine Boileau [France] ; Anne De Paepe [Belgique] ; Laurence Faivre [France]Source :
- American journal of human genetics [ 0002-9297 ] ; 2012.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
- KwdEn :
Abstract
Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-P-signaling pathway.
Url:
Affiliations:
- Allemagne, Australie, Belgique, Espagne, France, Italie, Royaume-Uni
- Angleterre, Berlin, Bourgogne, Bourgogne-Franche-Comté, Communauté de Madrid, Grand Londres, Midi-Pyrénées, Nouvelle-Galles du Sud, Occitanie (région administrative), Provence-Alpes-Côte d'Azur, Province de Flandre-Orientale, Région Bourgogne, Île-de-France
- Berlin, Dijon, Gand, Londres, Marseille, Paris, Sydney, Toulouse
- Université de Bourgogne, Université de Bourgogne Franche-Comté, Université de Londres, Université de Sydney
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Le document en format XML
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</placeName>
<orgName type="university">Université de Bourgogne</orgName>
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<settlement type="city">Dijon</settlement>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
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<wicri:noRegion>Centre Hospitalier Universitaire</wicri:noRegion>
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<author><name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name>
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<country>France</country>
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</affiliation>
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<author><name sortKey="Gigot, Nadege" sort="Gigot, Nadege" uniqKey="Gigot N" first="Nadege" last="Gigot">Nadege Gigot</name>
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<country>France</country>
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<settlement type="city">Dijon</settlement>
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</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo</s1>
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<country>Italie</country>
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</affiliation>
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<author><name sortKey="Grasso, Maurizia" sort="Grasso, Maurizia" uniqKey="Grasso M" first="Maurizia" last="Grasso">Maurizia Grasso</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo</s1>
<s2>27100 Pavia</s2>
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<country>Italie</country>
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</affiliation>
</author>
<author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name>
<affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Institut fur Medizinische Genetik und Humangenetik, Charite-Universitatsmedizin Berlin</s1>
<s2>13353 Berlin</s2>
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<sZ>24 aut.</sZ>
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<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
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</placeName>
</affiliation>
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<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Centre de Reference pour les Anomalies du Developpement, Service de Genetique, Hôpital Pellegrin, Centre Hospitalier Universitaire Bordeaux</s1>
<s2>33076 Bordeaux</s2>
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<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>33076 Bordeaux</wicri:noRegion>
<wicri:noRegion>Centre Hospitalier Universitaire Bordeaux</wicri:noRegion>
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</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Equipe d'Accueil 4576, Laboratoire Maladies Rares: Genetique et Metabolisme, Universite Bordeaux</s1>
<s2>33076 Bordeaux</s2>
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<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
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</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
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<sZ>26 aut.</sZ>
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<country>France</country>
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</placeName>
</affiliation>
</author>
<author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name>
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<country>Italie</country>
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</author>
<author><name sortKey="Del Pozo, Jaime Sanchez" sort="Del Pozo, Jaime Sanchez" uniqKey="Del Pozo J" first="Jaime Sanchez" last="Del Pozo">Jaime Sanchez Del Pozo</name>
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<country>Espagne</country>
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</affiliation>
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<author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
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<country>France</country>
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<author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name>
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<country>France</country>
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</placeName>
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<author><name sortKey="Collod Beroud, Gwenaelle" sort="Collod Beroud, Gwenaelle" uniqKey="Collod Beroud G" first="Gwenaelle" last="Collod-Beroud">Gwenaelle Collod-Beroud</name>
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<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
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<author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
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<s2>75015 Paris</s2>
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<placeName><region type="region" nuts="2">Île-de-France</region>
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<author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Riviere">Jean-Baptiste Riviere</name>
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<author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
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<country>France</country>
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</affiliation>
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<author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg Syndrome</title>
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<author><name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
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<author><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name>
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<author><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name>
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<author><name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name>
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<author><name sortKey="Gueneau, Lucie" sort="Gueneau, Lucie" uniqKey="Gueneau L" first="Lucie" last="Gueneau">Lucie Gueneau</name>
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<author><name sortKey="Courcet, Jean Benoit" sort="Courcet, Jean Benoit" uniqKey="Courcet J" first="Jean-Benoit" last="Courcet">Jean-Benoit Courcet</name>
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<author><name sortKey="Lopez, Estelle" sort="Lopez, Estelle" uniqKey="Lopez E" first="Estelle" last="Lopez">Estelle Lopez</name>
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<country>France</country>
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<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire</s1>
<s2>21079 Dijon</s2>
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<sZ>19 aut.</sZ>
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</inist:fA14>
<country>France</country>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>Centre Hospitalier Universitaire</wicri:noRegion>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Equipe d'Accueil 4271, Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne</s1>
<s2>21079 Dijon</s2>
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<sZ>35 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>Universite de Bourgogne</wicri:noRegion>
<placeName><settlement type="city">Dijon</settlement>
<region type="region" nuts="2">Région Bourgogne</region>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
<orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Service de Dermatologie, Centre Hospitalier Universitaire Bocage</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>20 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Gigot, Nadege" sort="Gigot, Nadege" uniqKey="Gigot N" first="Nadege" last="Gigot">Nadege Gigot</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Equipe d'Accueil 4271, Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
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<sZ>35 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
</author>
<author><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo</s1>
<s2>27100 Pavia</s2>
<s3>ITA</s3>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>27100 Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Grasso, Maurizia" sort="Grasso, Maurizia" uniqKey="Grasso M" first="Maurizia" last="Grasso">Maurizia Grasso</name>
<affiliation wicri:level="1"><inist:fA14 i1="14"><s1>Centre for Inherited Cardiovascular Diseases, Foundation Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo</s1>
<s2>27100 Pavia</s2>
<s3>ITA</s3>
<sZ>22 aut.</sZ>
<sZ>23 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>27100 Pavia</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name>
<affiliation wicri:level="3"><inist:fA14 i1="15"><s1>Institut fur Medizinische Genetik und Humangenetik, Charite-Universitatsmedizin Berlin</s1>
<s2>13353 Berlin</s2>
<s3>DEU</s3>
<sZ>24 aut.</sZ>
</inist:fA14>
<country>Allemagne</country>
<placeName><region type="land" nuts="3">Berlin</region>
<settlement type="city">Berlin</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<affiliation wicri:level="1"><inist:fA14 i1="16"><s1>Centre de Reference pour les Anomalies du Developpement, Service de Genetique, Hôpital Pellegrin, Centre Hospitalier Universitaire Bordeaux</s1>
<s2>33076 Bordeaux</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>33076 Bordeaux</wicri:noRegion>
<wicri:noRegion>Centre Hospitalier Universitaire Bordeaux</wicri:noRegion>
<wicri:noRegion>33076 Bordeaux</wicri:noRegion>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="17"><s1>Equipe d'Accueil 4576, Laboratoire Maladies Rares: Genetique et Metabolisme, Universite Bordeaux</s1>
<s2>33076 Bordeaux</s2>
<s3>FRA</s3>
<sZ>25 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>33076 Bordeaux</wicri:noRegion>
<wicri:noRegion>Universite Bordeaux</wicri:noRegion>
<wicri:noRegion>33076 Bordeaux</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<affiliation wicri:level="1"><inist:fA14 i1="18"><s1>Service de Genetique Médicale, Hôpital Robert Debré, Assistance Publique-Hôpitaux de Paris</s1>
<s2>75019 Paris</s2>
<s3>FRA</s3>
<sZ>26 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>75019 Paris</wicri:noRegion>
<placeName><settlement type="city">Paris</settlement>
<region type="région" nuts="2">Île-de-France</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name>
<affiliation wicri:level="1"><inist:fA14 i1="19"><s1>Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute</s1>
<s2>16147 Genova</s2>
<s3>ITA</s3>
<sZ>27 aut.</sZ>
</inist:fA14>
<country>Italie</country>
<wicri:noRegion>16147 Genova</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Del Pozo, Jaime Sanchez" sort="Del Pozo, Jaime Sanchez" uniqKey="Del Pozo J" first="Jaime Sanchez" last="Del Pozo">Jaime Sanchez Del Pozo</name>
<affiliation wicri:level="2"><inist:fA14 i1="20"><s1>Department of Genetics, Division of Endocrinology, 12 de Octubre Hospital</s1>
<s2>28041 Madrid</s2>
<s3>ESP</s3>
<sZ>28 aut.</sZ>
</inist:fA14>
<country>Espagne</country>
<placeName><region nuts="2" type="communauté">Communauté de Madrid</region>
</placeName>
</affiliation>
</author>
<author><name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Equipe d'Accueil 4271, Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>21 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>35 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>Universite de Bourgogne</wicri:noRegion>
<placeName><settlement type="city">Dijon</settlement>
<region type="region" nuts="2">Région Bourgogne</region>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
<orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName>
</affiliation>
</author>
<author><name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name>
<affiliation wicri:level="3"><inist:fA14 i1="21"><s1>Institut National de la Sante et de la Recherche Médicale U698 and Centre de Reference pour les Syndromes de Marfan et Apparentes, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris</s1>
<s2>75877 Paris</s2>
<s3>FRA</s3>
<sZ>30 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</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="22"><s1>Institut National de la Sante et de la Recherche Médicale UMR_S910, Université Aix-Marseille</s1>
<s2>13000 Marseille</s2>
<s3>FRA</s3>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name>
<affiliation wicri:level="3"><inist:fA14 i1="22"><s1>Institut National de la Sante et de la Recherche Médicale UMR_S910, Université Aix-Marseille</s1>
<s2>13000 Marseille</s2>
<s3>FRA</s3>
<sZ>31 aut.</sZ>
<sZ>32 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="23"><s1>Département de Genetique Médicale, Hôpital d'Enfants de la Timone, Assistance Publique-Hopitaux de Marseille</s1>
<s2>13000 Marseille</s2>
<s3>FRA</s3>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<affiliation wicri:level="3"><inist:fA14 i1="23"><s1>Département de Genetique Médicale, Hôpital d'Enfants de la Timone, Assistance Publique-Hopitaux de Marseille</s1>
<s2>13000 Marseille</s2>
<s3>FRA</s3>
<sZ>32 aut.</sZ>
<sZ>33 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Provence-Alpes-Côte d'Azur</region>
<settlement type="city">Marseille</settlement>
</placeName>
</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="3"><inist:fA14 i1="24"><s1>Institut National de la Sante et de la Recherche Medicale U781 and Departement de Genetique, Fondation Imagine, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, Universite Paris Descartes-Sorbonne Paris Cite</s1>
<s2>75015 Paris</s2>
<s3>FRA</s3>
<sZ>34 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Île-de-France</region>
<settlement type="city">Paris</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Riviere">Jean-Baptiste Riviere</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Equipe d'Accueil 4271, Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>29 aut.</sZ>
<sZ>35 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
<settlement type="city">Dijon</settlement>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
</affiliation>
<affiliation wicri:level="1"><inist:fA14 i1="12"><s1>Service de Biologie Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>19 aut.</sZ>
<sZ>35 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>Centre Hospitalier Universitaire</wicri:noRegion>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
<affiliation wicri:level="1"><inist:fA14 i1="25"><s1>Laboratoire de Genetique Moléculaire, Hôpital Ambroise Pare, Assistance Publique-Hôpitaux de Paris, Universite Versailles-Saint Quentin en Yvelines</s1>
<s2>92104 Boulogne</s2>
<s3>FRA</s3>
<sZ>36 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>92104 Boulogne</wicri:noRegion>
<wicri:noRegion>Universite Versailles-Saint Quentin en Yvelines</wicri:noRegion>
<wicri:noRegion>92104 Boulogne</wicri:noRegion>
</affiliation>
</author>
<author><name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name>
<affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Center for Medical Genetics, Ghent University Hospital</s1>
<s2>9000 Ghent</s2>
<s3>BEL</s3>
<sZ>4 aut.</sZ>
<sZ>11 aut.</sZ>
<sZ>14 aut.</sZ>
<sZ>37 aut.</sZ>
</inist:fA14>
<country>Belgique</country>
<placeName><region type="province" nuts="2">Province de Flandre-Orientale</region>
<settlement type="city">Gand</settlement>
</placeName>
</affiliation>
</author>
<author><name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<affiliation wicri:level="4"><inist:fA14 i1="01"><s1>Equipe d'Accueil 4271, Equipe Genetique des Anomalies du Developpement, Universite de Bourgogne</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>1 aut.</sZ>
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<sZ>20 aut.</sZ>
<sZ>21 aut.</sZ>
<sZ>29 aut.</sZ>
<sZ>35 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<wicri:noRegion>21079 Dijon</wicri:noRegion>
<wicri:noRegion>Universite de Bourgogne</wicri:noRegion>
<placeName><settlement type="city">Dijon</settlement>
<region type="region" nuts="2">Région Bourgogne</region>
</placeName>
<orgName type="university">Université de Bourgogne</orgName>
<orgName type="institution" wicri:auto="newGroup">Université de Bourgogne Franche-Comté</orgName>
</affiliation>
<affiliation wicri:level="3"><inist:fA14 i1="02"><s1>Centre de Genetique et Centre de Reference Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants</s1>
<s2>21079 Dijon</s2>
<s3>FRA</s3>
<sZ>2 aut.</sZ>
<sZ>6 aut.</sZ>
<sZ>38 aut.</sZ>
</inist:fA14>
<country>France</country>
<placeName><region type="region" nuts="2">Bourgogne-Franche-Comté</region>
<region type="old region" nuts="2">Bourgogne</region>
<settlement type="city">Dijon</settlement>
</placeName>
</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="2012">2012</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>Dominant character</term>
<term>Exon</term>
<term>Genetics</term>
<term>Mutation</term>
</keywords>
<keywords scheme="Pascal" xml:lang="fr"><term>Mutation</term>
<term>Exon</term>
<term>Caractère dominant</term>
<term>Génétique</term>
</keywords>
<keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term>
</keywords>
</textClass>
</profileDesc>
</teiHeader>
<front><div type="abstract" xml:lang="en">Shprintzen-Goldberg syndrome (SGS) is characterized by severe marfanoid habitus, intellectual disability, camptodactyly, typical facial dysmorphism, and craniosynostosis. Using family-based exome sequencing, we identified a dominantly inherited heterozygous in-frame deletion in exon 1 of SKI. Direct sequencing of SKI further identified one overlapping heterozygous in-frame deletion and ten heterozygous missense mutations affecting recurrent residues in 18 of the 19 individuals screened for SGS; these individuals included one family affected by somatic mosaicism. All mutations were located in a restricted area of exon 1, within the R-SMAD binding domain of SKI. No mutation was found in a cohort of 11 individuals with other marfanoid-craniosynostosis phenotypes. The interaction between SKI and Smad2/3 and Smad 4 regulates TGF-β signaling, and the pattern of anomalies in Ski-deficient mice corresponds to the clinical manifestations of SGS. These findings define SGS as a member of the family of diseases associated with the TGF-P-signaling pathway.</div>
</front>
</TEI>
<affiliations><list><country><li>Allemagne</li>
<li>Australie</li>
<li>Belgique</li>
<li>Espagne</li>
<li>France</li>
<li>Italie</li>
<li>Royaume-Uni</li>
</country>
<region><li>Angleterre</li>
<li>Berlin</li>
<li>Bourgogne</li>
<li>Bourgogne-Franche-Comté</li>
<li>Communauté de Madrid</li>
<li>Grand Londres</li>
<li>Midi-Pyrénées</li>
<li>Nouvelle-Galles du Sud</li>
<li>Occitanie (région administrative)</li>
<li>Provence-Alpes-Côte d'Azur</li>
<li>Province de Flandre-Orientale</li>
<li>Région Bourgogne</li>
<li>Île-de-France</li>
</region>
<settlement><li>Berlin</li>
<li>Dijon</li>
<li>Gand</li>
<li>Londres</li>
<li>Marseille</li>
<li>Paris</li>
<li>Sydney</li>
<li>Toulouse</li>
</settlement>
<orgName><li>Université de Bourgogne</li>
<li>Université de Bourgogne Franche-Comté</li>
<li>Université de Londres</li>
<li>Université de Sydney</li>
</orgName>
</list>
<tree><country name="France"><region name="Bourgogne-Franche-Comté"><name sortKey="Carmignac, Virginie" sort="Carmignac, Virginie" uniqKey="Carmignac V" first="Virginie" last="Carmignac">Virginie Carmignac</name>
</region>
<name sortKey="Amiel, Jeanne" sort="Amiel, Jeanne" uniqKey="Amiel J" first="Jeanne" last="Amiel">Jeanne Amiel</name>
<name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name>
<name sortKey="Aral, Bernard" sort="Aral, Bernard" uniqKey="Aral B" first="Bernard" last="Aral">Bernard Aral</name>
<name sortKey="Baumann, Clarisse" sort="Baumann, Clarisse" uniqKey="Baumann C" first="Clarisse" last="Baumann">Clarisse Baumann</name>
<name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name>
<name sortKey="Beroud, Christophe" sort="Beroud, Christophe" uniqKey="Beroud C" first="Christophe" last="Beroud">Christophe Beroud</name>
<name sortKey="Boileau, Catherine" sort="Boileau, Catherine" uniqKey="Boileau C" first="Catherine" last="Boileau">Catherine Boileau</name>
<name sortKey="Callier, Patrick" sort="Callier, Patrick" uniqKey="Callier P" first="Patrick" last="Callier">Patrick Callier</name>
<name sortKey="Callier, Patrick" sort="Callier, Patrick" uniqKey="Callier P" first="Patrick" last="Callier">Patrick Callier</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="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valérie" last="Cormier-Daire">Valérie Cormier-Daire</name>
<name sortKey="Courcet, Jean Benoit" sort="Courcet, Jean Benoit" uniqKey="Courcet J" first="Jean-Benoit" last="Courcet">Jean-Benoit Courcet</name>
<name sortKey="Duplomb, Laurence" sort="Duplomb, Laurence" uniqKey="Duplomb L" first="Laurence" last="Duplomb">Laurence Duplomb</name>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<name sortKey="Faivre, Laurence" sort="Faivre, Laurence" uniqKey="Faivre L" first="Laurence" last="Faivre">Laurence Faivre</name>
<name sortKey="Gigot, Nadege" sort="Gigot, Nadege" uniqKey="Gigot N" first="Nadege" last="Gigot">Nadege Gigot</name>
<name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<name sortKey="Goizet, Cyril" sort="Goizet, Cyril" uniqKey="Goizet C" first="Cyril" last="Goizet">Cyril Goizet</name>
<name sortKey="Gueneau, Lucie" sort="Gueneau, Lucie" uniqKey="Gueneau L" first="Lucie" last="Gueneau">Lucie Gueneau</name>
<name sortKey="Huet, Frederic" sort="Huet, Frederic" uniqKey="Huet F" first="Frédéric" last="Huet">Frédéric Huet</name>
<name sortKey="Jondeau, Guillaume" sort="Jondeau, Guillaume" uniqKey="Jondeau G" first="Guillaume" last="Jondeau">Guillaume Jondeau</name>
<name sortKey="Julia, Sophie" sort="Julia, Sophie" uniqKey="Julia S" first="Sophie" last="Julia">Sophie Julia</name>
<name sortKey="Lopez, Estelle" sort="Lopez, Estelle" uniqKey="Lopez E" first="Estelle" last="Lopez">Estelle Lopez</name>
<name sortKey="Plauchu, Henri" sort="Plauchu, Henri" uniqKey="Plauchu H" first="Henri" last="Plauchu">Henri Plauchu</name>
<name sortKey="Plessis, Ghislaine" sort="Plessis, Ghislaine" uniqKey="Plessis G" first="Ghislaine" last="Plessis">Ghislaine Plessis</name>
<name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Riviere">Jean-Baptiste Riviere</name>
<name sortKey="Riviere, Jean Baptiste" sort="Riviere, Jean Baptiste" uniqKey="Riviere J" first="Jean-Baptiste" last="Riviere">Jean-Baptiste Riviere</name>
<name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name>
<name sortKey="Thauvin Robinet, Christel" sort="Thauvin Robinet, Christel" uniqKey="Thauvin Robinet C" first="Christel" last="Thauvin-Robinet">Christel Thauvin-Robinet</name>
<name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<name sortKey="Thevenon, Julien" sort="Thevenon, Julien" uniqKey="Thevenon J" first="Julien" last="Thevenon">Julien Thevenon</name>
<name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name>
<name sortKey="Vabres, Pierre" sort="Vabres, Pierre" uniqKey="Vabres P" first="Pierre" last="Vabres">Pierre Vabres</name>
</country>
<country name="Australie"><noRegion><name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name>
</noRegion>
<name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name>
<name sortKey="Ades, Lesley" sort="Ades, Lesley" uniqKey="Ades L" first="Lesley" last="Ades">Lesley Ades</name>
<name sortKey="Holman, Katherine" sort="Holman, Katherine" uniqKey="Holman K" first="Katherine" last="Holman">Katherine Holman</name>
<name sortKey="Holman, Katherine" sort="Holman, Katherine" uniqKey="Holman K" first="Katherine" last="Holman">Katherine Holman</name>
<name sortKey="Holman, Katherine" sort="Holman, Katherine" uniqKey="Holman K" first="Katherine" last="Holman">Katherine Holman</name>
</country>
<country name="Belgique"><region name="Province de Flandre-Orientale"><name sortKey="Callewaert, Bert" sort="Callewaert, Bert" uniqKey="Callewaert B" first="Bert" last="Callewaert">Bert Callewaert</name>
</region>
<name sortKey="De Backer, Julie" sort="De Backer, Julie" uniqKey="De Backer J" first="Julie" last="De Backer">Julie De Backer</name>
<name sortKey="De Paepe, Anne" sort="De Paepe, Anne" uniqKey="De Paepe A" first="Anne" last="De Paepe">Anne De Paepe</name>
<name sortKey="Renard, Marjolijn" sort="Renard, Marjolijn" uniqKey="Renard M" first="Marjolijn" last="Renard">Marjolijn Renard</name>
</country>
<country name="Royaume-Uni"><region name="Angleterre"><name sortKey="Child, Anne" sort="Child, Anne" uniqKey="Child A" first="Anne" last="Child">Anne Child</name>
</region>
<name sortKey="Arno, Gavin" sort="Arno, Gavin" uniqKey="Arno G" first="Gavin" last="Arno">Gavin Arno</name>
</country>
<country name="Italie"><noRegion><name sortKey="Arbustini, Eloisa" sort="Arbustini, Eloisa" uniqKey="Arbustini E" first="Eloisa" last="Arbustini">Eloisa Arbustini</name>
</noRegion>
<name sortKey="Di Rocco, Maja" sort="Di Rocco, Maja" uniqKey="Di Rocco M" first="Maja" last="Di Rocco">Maja Di Rocco</name>
<name sortKey="Grasso, Maurizia" sort="Grasso, Maurizia" uniqKey="Grasso M" first="Maurizia" last="Grasso">Maurizia Grasso</name>
</country>
<country name="Allemagne"><region name="Berlin"><name sortKey="Robinson, Peter N" sort="Robinson, Peter N" uniqKey="Robinson P" first="Peter N." last="Robinson">Peter N. Robinson</name>
</region>
</country>
<country name="Espagne"><region name="Communauté de Madrid"><name sortKey="Del Pozo, Jaime Sanchez" sort="Del Pozo, Jaime Sanchez" uniqKey="Del Pozo J" first="Jaime Sanchez" last="Del Pozo">Jaime Sanchez Del Pozo</name>
</region>
</country>
</tree>
</affiliations>
</record>
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