AustralieFrV1, PascalFrancis, Corpus, bibRecord, 004564

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Identifieur interne : 004564 ( PascalFrancis/Corpus ); précédent : 004563; suivant : 004565

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Auteurs : Olivier Hagens ; Aline Dubos ; Fatima Abidi ; Gotthold Barbi ; Laura Van Zutven ; Maria Hoeltzenbein ; Niels Tommerup ; Claude Moraine ; Jean-Pierre Fryns ; Jamel Chelly ; Hans Van Bokhoven ; Jozef Gecz ; Hélène Dollfus ; Hans-Hilger Ropers ; Charles E. Schwartz ; Rita De Cassia Stocco Dos Santos ; Vera Kalscheuer ; André Hanauer

Source :

Human genetics [ 0340-6717 ] ; 2006.

RBID : Pascal:06-0107078

Descripteurs français

Pascal (Inist)
- Mutation complète, Gène, Caractère lié au sexe, Chromosome X, Génétique, Arriération mentale.

English descriptors

KwdEn :
- Gene, Genetics, Mental retardation, Null mutation, Sex linked character, X-Chromosome.

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.

Notice en format standard (ISO 2709)

Pour connaître la documentation sur le format Inist Standard.

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A14	`10`			`@1 Department of Human Genetics, Radboud University Nijmegen Medical Center @2 Nijmegen @3 NLD @Z 11 aut.`
A14	`11`			`@1 Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide @2 Adelaide @3 AUS @Z 12 aut.`
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C01	`01`		`ENG`	@0 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.
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Format Inist (serveur)

NO :	PASCAL 06-0107078 INIST
ET :	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
AU :	HAGENS (Olivier); DUBOS (Aline); ABIDI (Fatima); BARBI (Gotthold); VAN ZUTVEN (Laura); HOELTZENBEIN (Maria); TOMMERUP (Niels); MORAINE (Claude); FRYNS (Jean-Pierre); CHELLY (Jamel); VAN BOKHOVEN (Hans); GECZ (Jozef); DOLLFUS (Hélène); ROPERS (Hans-Hilger); SCHWARTZ (Charles E.); DE CASSIA STOCCO DOS SANTOS (Rita); KALSCHEUER (Vera); HANAUER (André)
AF :	Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73/14195 Berlin/Allemagne (1 aut., 5 aut., 6 aut., 14 aut., 17 aut.); Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)/Illkirch/France (2 aut., 18 aut.); J. C. Self Research Institute, Greenwood Genetic Center/Greenwood/Etats-Unis (3 aut., 15 aut.); Department of Human Genetics, University of Ulm/Ulm/Allemagne (4 aut.); Department of Genetics, Erasmus MC/Rotterdam/Pays-Bas (5 aut.); Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research/Copenhagen/Danemark (7 aut.); Services de Génétique (INSERM)/Tours/France (8 aut.); Centre for Human Genetics, University Hospital Leuven/Leuven/Belgique (9 aut.); Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)/Paris/France (10 aut.); Department of Human Genetics, Radboud University Nijmegen Medical Center/Nijmegen/Pays-Bas (11 aut.); Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide/Adelaide/Australie (12 aut.); Service de Génétique Médicale, Hopitaux Universitaires de Strasbourg/Strasbourg/France (13 aut.); Laboratório de Genética, Instituto Butantan, Universidade de Taubaté/São Paulo/Brésil (16 aut.)
DT :	Publication en série; Niveau analytique
SO :	Human genetics; ISSN 0340-6717; Coden HUGEDQ; Allemagne; Da. 2006; Vol. 118; No. 5; Pp. 578-590; Bibl. 31 ref.
LA :	Anglais
EA :	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.
CC :	002A07C03; 002B18C12
FD :	Mutation complète; Gène; Caractère lié au sexe; Chromosome X; Génétique; Arriération mentale
FG :	Déficience intellectuelle; Trouble développement
ED :	Null mutation; Gene; Sex linked character; X-Chromosome; Genetics; Mental retardation
EG :	Intellectual deficiency; Developmental disorder
SD :	Mutación nula; Gen; Carácter ligado al sexo; Cromosoma X; Genética; Retraso mental
LO :	INIST-2672.354000135349960040
ID :	06-0107078

Links to Exploration step

Pascal:06-0107078

Le document en format XML

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<author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
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<author><name sortKey="Schwartz, Charles E" sort="Schwartz, Charles E" uniqKey="Schwartz C" first="Charles E." last="Schwartz">Charles E. Schwartz</name>
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<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>
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<s2>14195 Berlin</s2>
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<author><name sortKey="Hanauer, Andre" sort="Hanauer, Andre" uniqKey="Hanauer A" first="André" last="Hanauer">André Hanauer</name>
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<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><inist:fA14 i1="01"><s1>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73</s1>
<s2>14195 Berlin</s2>
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<author><name sortKey="Dubos, Aline" sort="Dubos, Aline" uniqKey="Dubos A" first="Aline" last="Dubos">Aline Dubos</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Abidi, Fatima" sort="Abidi, Fatima" uniqKey="Abidi F" first="Fatima" last="Abidi">Fatima Abidi</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Barbi, Gotthold" sort="Barbi, Gotthold" uniqKey="Barbi G" first="Gotthold" last="Barbi">Gotthold Barbi</name>
<affiliation><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>
</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><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>
</affiliation>
<affiliation><inist:fA14 i1="05"><s1>Department of Genetics, Erasmus MC</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>5 aut.</sZ>
</inist:fA14>
</affiliation>
</author>
<author><name sortKey="Hoeltzenbein, Maria" sort="Hoeltzenbein, Maria" uniqKey="Hoeltzenbein M" first="Maria" last="Hoeltzenbein">Maria Hoeltzenbein</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Tommerup, Niels" sort="Tommerup, Niels" uniqKey="Tommerup N" first="Niels" last="Tommerup">Niels Tommerup</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Moraine, Claude" sort="Moraine, Claude" uniqKey="Moraine C" first="Claude" last="Moraine">Claude Moraine</name>
<affiliation><inist:fA14 i1="07"><s1>Services de Génétique (INSERM)</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</inist:fA14>
</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><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>
</affiliation>
</author>
<author><name sortKey="Chelly, Jamel" sort="Chelly, Jamel" uniqKey="Chelly J" first="Jamel" last="Chelly">Jamel Chelly</name>
<affiliation><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Gecz, Jozef" sort="Gecz, Jozef" uniqKey="Gecz J" first="Jozef" last="Gecz">Jozef Gecz</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Dollfus, Helene" sort="Dollfus, Helene" uniqKey="Dollfus H" first="Hélène" last="Dollfus">Hélène Dollfus</name>
<affiliation><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>
</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><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>
</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><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>
</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><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>
</affiliation>
</author>
<author><name sortKey="Kalscheuer, Vera" sort="Kalscheuer, Vera" uniqKey="Kalscheuer V" first="Vera" last="Kalscheuer">Vera Kalscheuer</name>
<affiliation><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>
</affiliation>
</author>
<author><name sortKey="Hanauer, Andre" sort="Hanauer, Andre" uniqKey="Hanauer A" first="André" last="Hanauer">André Hanauer</name>
<affiliation><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>
</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>
</textClass>
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<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>
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<fA06><s2>5</s2>
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<fA08 i1="01" i2="1" l="ENG"><s1>Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation</s1>
</fA08>
<fA11 i1="01" i2="1"><s1>HAGENS (Olivier)</s1>
</fA11>
<fA11 i1="02" i2="1"><s1>DUBOS (Aline)</s1>
</fA11>
<fA11 i1="03" i2="1"><s1>ABIDI (Fatima)</s1>
</fA11>
<fA11 i1="04" i2="1"><s1>BARBI (Gotthold)</s1>
</fA11>
<fA11 i1="05" i2="1"><s1>VAN ZUTVEN (Laura)</s1>
</fA11>
<fA11 i1="06" i2="1"><s1>HOELTZENBEIN (Maria)</s1>
</fA11>
<fA11 i1="07" i2="1"><s1>TOMMERUP (Niels)</s1>
</fA11>
<fA11 i1="08" i2="1"><s1>MORAINE (Claude)</s1>
</fA11>
<fA11 i1="09" i2="1"><s1>FRYNS (Jean-Pierre)</s1>
</fA11>
<fA11 i1="10" i2="1"><s1>CHELLY (Jamel)</s1>
</fA11>
<fA11 i1="11" i2="1"><s1>VAN BOKHOVEN (Hans)</s1>
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<fA11 i1="12" i2="1"><s1>GECZ (Jozef)</s1>
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<fA11 i1="13" i2="1"><s1>DOLLFUS (Hélène)</s1>
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<fA11 i1="14" i2="1"><s1>ROPERS (Hans-Hilger)</s1>
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<fA11 i1="15" i2="1"><s1>SCHWARTZ (Charles E.)</s1>
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<fA11 i1="16" i2="1"><s1>DE CASSIA STOCCO DOS SANTOS (Rita)</s1>
</fA11>
<fA11 i1="17" i2="1"><s1>KALSCHEUER (Vera)</s1>
</fA11>
<fA11 i1="18" i2="1"><s1>HANAUER (André)</s1>
</fA11>
<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>
</fA14>
<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>
</fA14>
<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>
</fA14>
<fA14 i1="04"><s1>Department of Human Genetics, University of Ulm</s1>
<s2>Ulm</s2>
<s3>DEU</s3>
<sZ>4 aut.</sZ>
</fA14>
<fA14 i1="05"><s1>Department of Genetics, Erasmus MC</s1>
<s2>Rotterdam</s2>
<s3>NLD</s3>
<sZ>5 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="07"><s1>Services de Génétique (INSERM)</s1>
<s2>Tours</s2>
<s3>FRA</s3>
<sZ>8 aut.</sZ>
</fA14>
<fA14 i1="08"><s1>Centre for Human Genetics, University Hospital Leuven</s1>
<s2>Leuven</s2>
<s3>BEL</s3>
<sZ>9 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="10"><s1>Department of Human Genetics, Radboud University Nijmegen Medical Center</s1>
<s2>Nijmegen</s2>
<s3>NLD</s3>
<sZ>11 aut.</sZ>
</fA14>
<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>
</fA14>
<fA14 i1="12"><s1>Service de Génétique Médicale, Hopitaux Universitaires de Strasbourg</s1>
<s2>Strasbourg</s2>
<s3>FRA</s3>
<sZ>13 aut.</sZ>
</fA14>
<fA14 i1="13"><s1>Laboratório de Genética, Instituto Butantan, Universidade de Taubaté</s1>
<s2>São Paulo</s2>
<s3>BRA</s3>
<sZ>16 aut.</sZ>
</fA14>
<fA20><s1>578-590</s1>
</fA20>
<fA21><s1>2006</s1>
</fA21>
<fA23 i1="01"><s0>ENG</s0>
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<fA43 i1="01"><s1>INIST</s1>
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<fA47 i1="01" i2="1"><s0>06-0107078</s0>
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<fC01 i1="01" l="ENG"><s0>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.</s0>
</fC01>
<fC02 i1="01" i2="X"><s0>002A07C03</s0>
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<s5>02</s5>
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<s5>03</s5>
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<s5>03</s5>
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<s5>03</s5>
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<fC03 i1="04" i2="X" l="FRE"><s0>Chromosome X</s0>
<s5>04</s5>
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<fC03 i1="04" i2="X" l="ENG"><s0>X-Chromosome</s0>
<s5>04</s5>
<s6>«X»-Chromosome</s6>
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<fC03 i1="04" i2="X" l="SPA"><s0>Cromosoma X</s0>
<s5>04</s5>
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<s5>19</s5>
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<fC07 i1="02" i2="X" l="FRE"><s0>Trouble développement</s0>
<s5>20</s5>
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<s5>20</s5>
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<server><NO>PASCAL 06-0107078 INIST</NO>
<ET>Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation</ET>
<AU>HAGENS (Olivier); DUBOS (Aline); ABIDI (Fatima); BARBI (Gotthold); VAN ZUTVEN (Laura); HOELTZENBEIN (Maria); TOMMERUP (Niels); MORAINE (Claude); FRYNS (Jean-Pierre); CHELLY (Jamel); VAN BOKHOVEN (Hans); GECZ (Jozef); DOLLFUS (Hélène); ROPERS (Hans-Hilger); SCHWARTZ (Charles E.); DE CASSIA STOCCO DOS SANTOS (Rita); KALSCHEUER (Vera); HANAUER (André)</AU>
<AF>Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73/14195 Berlin/Allemagne (1 aut., 5 aut., 6 aut., 14 aut., 17 aut.); Department of Molecular Pathology, Institut de Génétique et de Biologie Moléculaire et Cellulaire (CNRS/INSERM/ULP)/Illkirch/France (2 aut., 18 aut.); J. C. Self Research Institute, Greenwood Genetic Center/Greenwood/Etats-Unis (3 aut., 15 aut.); Department of Human Genetics, University of Ulm/Ulm/Allemagne (4 aut.); Department of Genetics, Erasmus MC/Rotterdam/Pays-Bas (5 aut.); Department of Medical Biochemistry and Genetics, Wilhelm Johannsen Centre for Functional Genome Research/Copenhagen/Danemark (7 aut.); Services de Génétique (INSERM)/Tours/France (8 aut.); Centre for Human Genetics, University Hospital Leuven/Leuven/Belgique (9 aut.); Institut Cochin de Génétique Moléculaire, Centre National de la Recherche Scientifique (INSERM)/Paris/France (10 aut.); Department of Human Genetics, Radboud University Nijmegen Medical Center/Nijmegen/Pays-Bas (11 aut.); Department of Genetic Medicine, Women's and Children's Hospital and Department of Pediatrics, University of Adelaide/Adelaide/Australie (12 aut.); Service de Génétique Médicale, Hopitaux Universitaires de Strasbourg/Strasbourg/France (13 aut.); Laboratório de Genética, Instituto Butantan, Universidade de Taubaté/São Paulo/Brésil (16 aut.)</AF>
<DT>Publication en série; Niveau analytique</DT>
<SO>Human genetics; ISSN 0340-6717; Coden HUGEDQ; Allemagne; Da. 2006; Vol. 118; No. 5; Pp. 578-590; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>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.</EA>
<CC>002A07C03; 002B18C12</CC>
<FD>Mutation complète; Gène; Caractère lié au sexe; Chromosome X; Génétique; Arriération mentale</FD>
<FG>Déficience intellectuelle; Trouble développement</FG>
<ED>Null mutation; Gene; Sex linked character; X-Chromosome; Genetics; Mental retardation</ED>
<EG>Intellectual deficiency; Developmental disorder</EG>
<SD>Mutación nula; Gen; Carácter ligado al sexo; Cromosoma X; Genética; Retraso mental</SD>
<LO>INIST-2672.354000135349960040</LO>
<ID>06-0107078</ID>
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

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