%0 Generic
%A G., Houge
%A I.H., Rasmussen
%A R., Hovland
%D 2011
%T Supplementary Material for: Loss-of-Function CNKSR2 Mutation Is a Likely Cause of Non-Syndromic X-Linked Intellectual Disability
%U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Loss-of-Function_i_CNKSR2_i_Mutation_Is_a_Likely_Cause_of_Non-Syndromic_X-Linked_Intellectual_Disability/5123143
%R 10.6084/m9.figshare.5123143.v1
%2 https://ndownloader.figshare.com/files/8708752
%K CNK2
%K CNKSR2
%K X-linked mental retardation
%X 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.
%I Karger Publishers