Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Identifieur interne : 00A004 ( Main/Exploration ); précédent : 00A003; suivant : 00A005Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Auteurs : Olivier Hagens [Allemagne] ; Aline Dubos [France] ; Fatima Abidi [États-Unis] ; Gotthold Barbi [Allemagne] ; Laura Van Zutven [Allemagne, Pays-Bas] ; Maria Hoeltzenbein [Allemagne] ; Niels Tommerup [Danemark] ; Claude Moraine [France] ; Jean-Pierre Fryns [Belgique] ; Jamel Chelly [France] ; Hans Van Bokhoven [Pays-Bas] ; Jozef Gecz [Australie] ; Hélène Dollfus [France] ; Hans-Hilger Ropers [Allemagne] ; Charles E. Schwartz [États-Unis] ; Rita De Cassia Stocco Dos Santos [Brésil] ; Vera Kalscheuer [Allemagne] ; André Hanauer [France]Source :
- Human genetics [ 0340-6717 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Génétique.
English descriptors
Abstract
The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition, Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt the novel human KIAA1202 (hKIAA1202) gene in both cases. We also identified a missense exchange in this gene, segregating with the Stocco dos Santos XLMR syndrome in a large four-generation pedigree but absent in > 1,000 control X-chromosomes. Among other phenotypic characteristics, the affected males in this family present with severe MR, delayed or no speech, seizures and hyperactivity. Molecular studies of HKIAA1202 determined its genomic organisation, its expression throughout the brain and the regulation of expression of its mouse homologue during development. Transient expression of the wild-type KIAA1202 protein in HeLa cells showed partial colocalisation with the F-actin based cytoskeleton. On the basis of its domain structure, we argue that hKIAA 1202 is a new member of the APX/ Shroom protein family. Members of this family contain a PDZ and two ASD domains of unknown function and have been shown to localise at the cytoskeleton, and play a role in neurulation, cellular architecture, actin remodelling and ion channel function. Our results suggest that hKIAA1202 may be important in cognitive function and/or development.
Affiliations:
- Allemagne, Australie, Belgique, Brésil, Danemark, France, Pays-Bas, États-Unis
- Alsace (région administrative), Bade-Wurtemberg, Berlin, Centre-Val de Loire, District de Tübingen, Grand Est, Gueldre, Hollande-Méridionale, Hovedstaden, Région Centre, État de São Paulo, Île-de-France
- Berlin, Copenhague, Nimègue, Paris, Rotterdam, Strasbourg, São Paulo, Tours, Ulm
- Université d'Ulm
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en" level="a">Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation</title><author><name sortKey="Hagens, Olivier" sort="Hagens, Olivier" uniqKey="Hagens O" first="Olivier" last="Hagens">Olivier Hagens</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Dubos, Aline" sort="Dubos, Aline" uniqKey="Dubos A" first="Aline" last="Dubos">Aline Dubos</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</s1><s2>Illkirch</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>J. 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Self Research Institute, Greenwood Genetic Center</s1><s2>Greenwood</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Greenwood</wicri:noRegion></affiliation></author><author><name sortKey="Barbi, Gotthold" sort="Barbi, Gotthold" uniqKey="Barbi G" first="Gotthold" last="Barbi">Gotthold Barbi</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Human Genetics, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Van Zutven, Laura" sort="Van Zutven, Laura" uniqKey="Van Zutven L" first="Laura" last="Van Zutven">Laura Van Zutven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Genetics, Erasmus MC</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>7 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Services de Génétique (INSERM)</s1><s2>Tours</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Centre for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>9 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Center</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Service de Génétique Médicale, Hopitaux Universitaires de Strasbourg</s1><s2>Strasbourg</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>J. C. Self Research Institute, Greenwood Genetic Center</s1><s2>Greenwood</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Greenwood</wicri:noRegion></affiliation></author><author><name sortKey="De Cassia Stocco Dos Santos, Rita" sort="De Cassia Stocco Dos Santos, Rita" uniqKey="De Cassia Stocco Dos Santos R" first="Rita" last="De Cassia Stocco Dos Santos">Rita De Cassia Stocco Dos Santos</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Laboratório de Genética, Instituto Butantan, Universidade de Taubaté</s1><s2>São Paulo</s2><s3>BRA</s3><sZ>16 aut.</sZ></inist:fA14><country>Brésil</country><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Hanauer, Andre" sort="Hanauer, Andre" uniqKey="Hanauer A" first="André" last="Hanauer">André Hanauer</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</s1><s2>Illkirch</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">INIST</idno><idno type="inist">06-0107078</idno><date when="2006">2006</date><idno type="stanalyst">PASCAL 06-0107078 INIST</idno><idno type="RBID">Pascal:06-0107078</idno><idno type="wicri:Area/PascalFrancis/Corpus">004564</idno><idno type="wicri:Area/PascalFrancis/Curation">001B31</idno><idno type="wicri:Area/PascalFrancis/Checkpoint">004108</idno><idno type="wicri:explorRef" wicri:stream="PascalFrancis" wicri:step="Checkpoint">004108</idno><idno type="wicri:doubleKey">0340-6717:2006:Hagens O:disruptions:of:the</idno><idno type="wicri:Area/Main/Merge">00AB30</idno><idno type="wicri:Area/Main/Curation">00A004</idno><idno type="wicri:Area/Main/Exploration">00A004</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation</title><author><name sortKey="Hagens, Olivier" sort="Hagens, Olivier" uniqKey="Hagens O" first="Olivier" last="Hagens">Olivier Hagens</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Dubos, Aline" sort="Dubos, Aline" uniqKey="Dubos A" first="Aline" last="Dubos">Aline Dubos</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</s1><s2>Illkirch</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author><author><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>J. C. Self Research Institute, Greenwood Genetic Center</s1><s2>Greenwood</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Greenwood</wicri:noRegion></affiliation></author><author><name sortKey="Barbi, Gotthold" sort="Barbi, Gotthold" uniqKey="Barbi G" first="Gotthold" last="Barbi">Gotthold Barbi</name><affiliation wicri:level="4"><inist:fA14 i1="04"><s1>Department of Human Genetics, University of Ulm</s1><s2>Ulm</s2><s3>DEU</s3><sZ>4 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="1">Bade-Wurtemberg</region><region type="district" nuts="2">District de Tübingen</region><settlement type="city">Ulm</settlement><settlement type="city">Ulm</settlement></placeName><orgName type="university">Université d'Ulm</orgName></affiliation></author><author><name sortKey="Van Zutven, Laura" sort="Van Zutven, Laura" uniqKey="Van Zutven L" first="Laura" last="Van Zutven">Laura Van Zutven</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 aut.</sZ></inist:fA14><country>Allemagne</country><placeName><region type="land" nuts="3">Berlin</region><settlement type="city">Berlin</settlement></placeName></affiliation><affiliation wicri:level="3"><inist:fA14 i1="05"><s1>Department of Genetics, Erasmus MC</s1><s2>Rotterdam</s2><s3>NLD</s3><sZ>5 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Rotterdam</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name><affiliation wicri:level="3"><inist:fA14 i1="06"><s1>Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research</s1><s2>Copenhagen</s2><s3>DNK</s3><sZ>7 aut.</sZ></inist:fA14><country>Danemark</country><placeName><settlement type="city">Copenhague</settlement><region type="région" nuts="2">Hovedstaden</region></placeName></affiliation></author><author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name><affiliation wicri:level="3"><inist:fA14 i1="07"><s1>Services de Génétique (INSERM)</s1><s2>Tours</s2><s3>FRA</s3><sZ>8 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Centre-Val de Loire</region><region type="old region">Région Centre</region><settlement type="city">Tours</settlement></placeName></affiliation></author><author><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name><affiliation wicri:level="1"><inist:fA14 i1="08"><s1>Centre for Human Genetics, University Hospital Leuven</s1><s2>Leuven</s2><s3>BEL</s3><sZ>9 aut.</sZ></inist:fA14><country>Belgique</country><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><affiliation wicri:level="3"><inist:fA14 i1="09"><s1>Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)</s1><s2>Paris</s2><s3>FRA</s3><sZ>10 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name><affiliation wicri:level="3"><inist:fA14 i1="10"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Center</s1><s2>Nijmegen</s2><s3>NLD</s3><sZ>11 aut.</sZ></inist:fA14><country>Pays-Bas</country><placeName><settlement type="city">Nimègue</settlement><region type="province" nuts="2">Gueldre</region></placeName></affiliation></author><author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name><affiliation wicri:level="1"><inist:fA14 i1="11"><s1>Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide</s1><s2>Adelaide</s2><s3>AUS</s3><sZ>12 aut.</sZ></inist:fA14><country>Australie</country><wicri:noRegion>Adelaide</wicri:noRegion></affiliation></author><author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><affiliation wicri:level="3"><inist:fA14 i1="12"><s1>Service de Génétique Médicale, Hopitaux Universitaires de Strasbourg</s1><s2>Strasbourg</s2><s3>FRA</s3><sZ>13 aut.</sZ></inist:fA14><country>France</country><placeName><region type="region">Grand Est</region><region type="old region">Alsace (région administrative)</region><settlement type="city">Strasbourg</settlement></placeName></affiliation></author><author><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name><affiliation wicri:level="1"><inist:fA14 i1="03"><s1>J. C. Self Research Institute, Greenwood Genetic Center</s1><s2>Greenwood</s2><s3>USA</s3><sZ>3 aut.</sZ><sZ>15 aut.</sZ></inist:fA14><country>États-Unis</country><wicri:noRegion>Greenwood</wicri:noRegion></affiliation></author><author><name sortKey="De Cassia Stocco Dos Santos, Rita" sort="De Cassia Stocco Dos Santos, Rita" uniqKey="De Cassia Stocco Dos Santos R" first="Rita" last="De Cassia Stocco Dos Santos">Rita De Cassia Stocco Dos Santos</name><affiliation wicri:level="3"><inist:fA14 i1="13"><s1>Laboratório de Genética, Instituto Butantan, Universidade de Taubaté</s1><s2>São Paulo</s2><s3>BRA</s3><sZ>16 aut.</sZ></inist:fA14><country>Brésil</country><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName></affiliation></author><author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><affiliation wicri:level="3"><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1><s2>14195 Berlin</s2><s3>DEU</s3><sZ>1 aut.</sZ><sZ>5 aut.</sZ><sZ>6 aut.</sZ><sZ>14 aut.</sZ><sZ>17 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="Hanauer, Andre" sort="Hanauer, Andre" uniqKey="Hanauer A" first="André" last="Hanauer">André Hanauer</name><affiliation wicri:level="1"><inist:fA14 i1="02"><s1>Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</s1><s2>Illkirch</s2><s3>FRA</s3><sZ>2 aut.</sZ><sZ>18 aut.</sZ></inist:fA14><country>France</country><wicri:noRegion>Illkirch</wicri:noRegion><wicri:noRegion>Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)</wicri:noRegion><wicri:noRegion>Illkirch</wicri:noRegion></affiliation></author></analytic><series><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc><seriesStmt><title level="j" type="main">Human genetics</title><title level="j" type="abbreviated">Hum. genet.</title><idno type="ISSN">0340-6717</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Gene</term><term>Genetics</term><term>Mental retardation</term><term>Null mutation</term><term>Sex linked character</term><term>X-Chromosome</term></keywords><keywords scheme="Pascal" xml:lang="fr"><term>Mutation complète</term><term>Gène</term><term>Caractère lié au sexe</term><term>Chromosome X</term><term>Génétique</term><term>Arriération mentale</term></keywords><keywords scheme="Wicri" type="topic" xml:lang="fr"><term>Génétique</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The extensive heterogeneity underlying the genetic component of mental retardation (MR) is the main cause for our limited understanding of the aetiology of this highly prevalent condition, Hence we set out to identify genes involved in MR. We investigated the breakpoints of two balanced X;autosome translocations in two unrelated female patients with mild/moderate MR and found that the Xp11.2 breakpoints disrupt the novel human KIAA1202 (hKIAA1202) gene in both cases. We also identified a missense exchange in this gene, segregating with the Stocco dos Santos XLMR syndrome in a large four-generation pedigree but absent in > 1,000 control X-chromosomes. Among other phenotypic characteristics, the affected males in this family present with severe MR, delayed or no speech, seizures and hyperactivity. Molecular studies of HKIAA1202 determined its genomic organisation, its expression throughout the brain and the regulation of expression of its mouse homologue during development. Transient expression of the wild-type KIAA1202 protein in HeLa cells showed partial colocalisation with the F-actin based cytoskeleton. On the basis of its domain structure, we argue that hKIAA 1202 is a new member of the APX/ Shroom protein family. Members of this family contain a PDZ and two ASD domains of unknown function and have been shown to localise at the cytoskeleton, and play a role in neurulation, cellular architecture, actin remodelling and ion channel function. Our results suggest that hKIAA1202 may be important in cognitive function and/or development.</div></front></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>Belgique</li><li>Brésil</li><li>Danemark</li><li>France</li><li>Pays-Bas</li><li>États-Unis</li></country><region><li>Alsace (région administrative)</li><li>Bade-Wurtemberg</li><li>Berlin</li><li>Centre-Val de Loire</li><li>District de Tübingen</li><li>Grand Est</li><li>Gueldre</li><li>Hollande-Méridionale</li><li>Hovedstaden</li><li>Région Centre</li><li>État de São Paulo</li><li>Île-de-France</li></region><settlement><li>Berlin</li><li>Copenhague</li><li>Nimègue</li><li>Paris</li><li>Rotterdam</li><li>Strasbourg</li><li>São Paulo</li><li>Tours</li><li>Ulm</li></settlement><orgName><li>Université d'Ulm</li></orgName></list><tree><country name="Allemagne"><region name="Berlin"><name sortKey="Hagens, Olivier" sort="Hagens, Olivier" uniqKey="Hagens O" first="Olivier" last="Hagens">Olivier Hagens</name></region><name sortKey="Barbi, Gotthold" sort="Barbi, Gotthold" uniqKey="Barbi G" first="Gotthold" last="Barbi">Gotthold Barbi</name><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name><name sortKey="Ropers, Hans Hilger" sort="Ropers, Hans Hilger" uniqKey="Ropers H" first="Hans-Hilger" last="Ropers">Hans-Hilger Ropers</name><name sortKey="Van Zutven, Laura" sort="Van Zutven, Laura" uniqKey="Van Zutven L" first="Laura" last="Van Zutven">Laura Van Zutven</name></country><country name="France"><noRegion><name sortKey="Dubos, Aline" sort="Dubos, Aline" uniqKey="Dubos A" first="Aline" last="Dubos">Aline Dubos</name></noRegion><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name><name sortKey="Hanauer, Andre" sort="Hanauer, Andre" uniqKey="Hanauer A" first="André" last="Hanauer">André Hanauer</name><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name></country><country name="États-Unis"><noRegion><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name></noRegion><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name></country><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Van Zutven, Laura" sort="Van Zutven, Laura" uniqKey="Van Zutven L" first="Laura" last="Van Zutven">Laura Van Zutven</name></region><name sortKey="Van Bokhoven, Hans" sort="Van Bokhoven, Hans" uniqKey="Van Bokhoven H" first="Hans" last="Van Bokhoven">Hans Van Bokhoven</name></country><country name="Danemark"><region name="Hovedstaden"><name sortKey="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name></region></country><country name="Belgique"><noRegion><name sortKey="Fryns, Jean Pierre" sort="Fryns, Jean Pierre" uniqKey="Fryns J" first="Jean-Pierre" last="Fryns">Jean-Pierre Fryns</name></noRegion></country><country name="Australie"><noRegion><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name></noRegion></country><country name="Brésil"><region name="État de São Paulo"><name sortKey="De Cassia Stocco Dos Santos, Rita" sort="De Cassia Stocco Dos Santos, Rita" uniqKey="De Cassia Stocco Dos Santos R" first="Rita" last="De Cassia Stocco Dos Santos">Rita De Cassia Stocco Dos Santos</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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