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

Hagens, O., Dubos, A., Abidi, F., Barbi, G., Van Zutven, L., Hoeltzenbein, M., et al. (2006). Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Human Genetics, 118(5), 578-590. doi:10.1007/s00439-005-0072-2.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-84D9-9 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-84DA-7
Genre: Journal Article
Alternative Title : Hum. Gen.

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 Creators:
Hagens, Olivier1, Author              
Dubos, Aline, Author
Abidi, Fatima, Author
Barbi, Gotthold, Author
Van Zutven, Laura2, Author
Hoeltzenbein, Maria, Author
Tommerup, Niels, Author
Moraine, Claude, Author
Fryns, Jean-Pierre, Author
Chelly, Jamel, Author
van Bokhoven, Hans, Author
Gécz, Jozef, Author
Dollfus, Hélène, Author
Ropers, Hans-Hilger1, Author              
Schwartz, Charles E., Author
de Cassia Stocco dos Santos, Rita, Author
Kalscheuer, Vera M.3, Author              
Hanauer, André, Author
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Max Planck Society, ou_persistent13              
3Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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 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 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.

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Language(s): eng - English
 Dates: 2006-01-01
 Publication Status: Published in print
 Pages: -
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 Rev. Type: -
 Identifiers: eDoc: 307641
DOI: 10.1007/s00439-005-0072-2
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Title: Human Genetics
  Alternative Title : Hum. Gen.
Source Genre: Journal
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Pages: - Volume / Issue: 118 (5) Sequence Number: - Start / End Page: 578 - 590 Identifier: ISSN: 0340-6717