Journal
MOLECULAR SYNDROMOLOGY
Volume 2, Issue 2, Pages 60-63Publisher
KARGER
DOI: 10.1159/000335159
Keywords
CNK2; CNKSR2; X-linked mental retardation
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In a non-dysmorphic 5-year-old boy with developmental delay, well-controlled epilepsy, and microcephaly, a 234-kb deletion of Xp22.12 was detected by copy number analysis. The maternally inherited deletion removed the initial 15 of the 21 exons of the connector enhancer of KSR-2 gene called CNKSR2 or CNK2. Our finding suggests that loss of CNKSR2 is a novel cause of non-syndromic X-linked mental retardation, an assumption supported by high gene expression in the brain, localization to the post-synaptic density, and a role in RAS/MAPK-dependent signal transduction. Copyright (C) 2011 S. Karger AG, Basel
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