Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.

Abstract

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a previously unreported X-linked brain malformation syndrome caused by mutations of CASK. All five affected individuals with CASK mutations had congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia, and severe mental retardation.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Stem / abnormalities*
  • Cerebellum / abnormalities*
  • Child, Preschool
  • Ear / abnormalities
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Guanylate Kinases / genetics*
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics
  • Microcephaly / genetics*
  • Mutation*
  • Syndrome

Substances

  • CASK kinases
  • Guanylate Kinases