Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

G Houge; I H Rasmussen; R Hovland

doi:10.1159/000335159

Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability

Mol Syndromol. 2012 Jan;2(2):60-63. doi: 10.1159/000335159. Epub 2011 Dec 20.

Authors

G Houge¹, I H Rasmussen, R Hovland

Affiliation

¹ Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.

Abstract

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.