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Title: Detection and validation of copy number variation in X-linked mental retardation
Authors: Bauters, Marijke ×
Weuts, An
Vandewalle, Joke
Nevelsteen, Joke
Marynen, Peter
Van Esch, Hilde
Froyen, Guido #
Issue Date: 2008
Publisher: S. Karger
Series Title: Cytogenetic and Genome Research vol:123 issue:1-4 pages:44-53
Abstract: Studies to identify the genetic defects associated with X-linked mental retardation (XLMR) in males have revealed tens of genes important for normal brain development and cognitive functioning in men. Despite extensive efforts in breakpoint cloning of chromosomal rearrangements and mutation screening of candidate genes on the X chromosome, still many XLMR families and sporadic cases remain unsolved. It is now clear that submicroscopic copy number changes on the X chromosome can explain about 5% of these idiopathic cases. Interestingly, beside gene deletions, an increase in gene dosage due to genomic duplications seems to contribute to causality more often than expected. Since larger duplications on the X chromosome are tolerated compared to deletions, they often harbour more than one gene hampering the identification of the causal gene. In contrast to copy number variations (CNVs) on autosomes, most disease-associated CNVs on the X chromosome in males are inherited from their mothers who normally do not present with any clinical symptoms due to non-random X inactivation. Here, we review the different methods applied to study copy number alterations on the X chromosome in patients with cognitive impairment, discuss those CNVs that are associated with disease and elaborate on the genes and mechanisms involved. At the end, we will resume in vivo assays to study the relation of CNVs on the X chromosome and mental disability.
URI: 
ISSN: 1424-8581
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Human Genome Laboratory
Department of Human Genetics - miscellaneous
Molecular Genetics Section (-)
× corresponding author
# (joint) last author

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