Supplementary Material for: Loss-of-Function <i>CNKSR2</i> Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
2011-12-20T00:00:00Z (GMT) by
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 <i>CNKSR2 </i>or <i>CNK2</i>. Our finding suggests that loss of <i>CNKSR2</i> 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.