Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/23239
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dc.contributor.authorHagens, O.en
dc.contributor.authorDubos, A.en
dc.contributor.authorAbidi, F.en
dc.contributor.authorBarbi, G.en
dc.contributor.authorVan Zutven, L.en
dc.contributor.authorHoeltzenbein, M.en
dc.contributor.authorTommerup, N.en
dc.contributor.authorMoraine, C.en
dc.contributor.authorFryns, J.en
dc.contributor.authorChelly, J.en
dc.contributor.authorvan Bokhoven, H.en
dc.contributor.authorGecz, J.en
dc.contributor.authorDollfus, H.en
dc.contributor.authorRopers, H.en
dc.contributor.authorSchwartz, C.en
dc.contributor.authorde Cassia Stocco dos Santos, R.en
dc.contributor.authorKalscheuer, V.en
dc.contributor.authorHanauer, A.en
dc.date.issued2006en
dc.identifier.citationHuman Genetics, 2006; 118(5):578-590en
dc.identifier.issn0340-6717en
dc.identifier.issn1432-1203en
dc.identifier.urihttp://hdl.handle.net/2440/23239-
dc.description.abstractThe 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 hKIAA1202 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.en
dc.description.statementofresponsibilityOlivier Hagens, Aline Dubos, Fatima Abidi, Gotthold Barbi, Laura Van Zutven, Maria Hoeltzenbein, Niels Tommerup, Claude Moraine, Jean-Pierre Fryns and Jamel Chelly, et al.en
dc.language.isoenen
dc.publisherSpringeren
dc.rights© Springer-Verlag 2005en
dc.subjectChromosomes, Human, X; Subcellular Fractions; Animals; Humans; Mice; Mental Retardation, X-Linked; Translocation, Genetic; DNA; Cloning, Molecular; Mutagenesis; Amino Acid Sequence; Base Sequence; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Mutation; Molecular Sequence Dataen
dc.titleDisruptions of the novel KIAA1202 gene are associated with X-linked mental retardationen
dc.typeJournal articleen
dc.identifier.rmid0020060095en
dc.identifier.doi10.1007/s00439-005-0072-2en
dc.identifier.pubid53241-
pubs.library.collectionPaediatrics publicationsen
pubs.verification-statusVerifieden
pubs.publication-statusPublisheden
dc.identifier.orcidGecz, J. [0000-0002-7884-6861]en
Appears in Collections:Paediatrics publications

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