Title: Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Authors: 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
Gécz, Jozef
Dollfus, Hélène
Ropers, Hans-Hilger
Schwartz, Charles E
de Cassia Stocco Dos Santos, Rita
Kalscheuer, Vera
Hanauer, André #
Issue Date: Jan-2006
Publisher: Springer-Verlag
Series Title: Human Genetics vol:118 issue:5 pages:578-590
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.
ISSN: 0340-6717
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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