Title: Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis
Authors: Van Esch, Hilde ×
Hollanders, Karen
Badisco, Liesbeth
Melotte, Cindy
Van Hummelen, Paul
Vermeesch, Joris
Devriendt, Koenraad
Fryns, Jean-Pierre
Marynen, Peter
Froyen, Guido #
Issue Date: Jul-2005
Publisher: IRL Press
Series Title: Human Molecular Genetics vol:14 issue:13 pages:1795-1803
Abstract: X-linked ichthyosis (XLI) is often associated with a recurrent microdeletion at Xp22.31 due to non-allelic homologous recombination between the CRI-S232 low-copy repeat regions flanking the STS gene. The clinical features of these patients may include mental retardation (MR) and the VCX-A gene has been proposed as the candidate MR gene. Analysis of DNA from four XLI patients with MR by array-comparative genomic hybridization (array-CGH) on a 150 kb resolution X chromosome-specific array revealed a 1.5 Mb interstitial microdeletion with breakpoints in the CRI-S232 repeat sequences, each of which harbors a VCX gene. We demonstrate that the recombination sites in all four cases are situated in the 1 kb repeat unit 2 region present at the 3' ends of the VCX-A and VCX-B genes thereby deleting VCX-A and VCX-B1 but not VCX-B and VCX-C. Array-CGH with DNA of an XLI patient with MR and an inherited t(X;Y)(p22.31;q11.2) showed an Xpter deletion of 8.0 Mb resulting in the deletion of all four VCX genes and duplication of both VCY homologs. These data confirm the role of VCX-A in the occurrence of MR in XLI patients. Moreover, we propose a VCX/Y teamwork-dependent mechanism for the incidence of mental impairment in XLI patients.
ISSN: 0964-6906
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Animal Physiology and Neurobiology Section - miscellaneous
Human Genome Laboratory (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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