2. Academic Validation
  3. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

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.
Juliane Najm 1,  Denise Horn,  Isabella Wimplinger,  Jeffrey A Golden,  Victor V Chizhikov,  Jyotsna Sudi,  Susan L Christian,  Reinhard Ullmann,  Alma Kuechler,  Carola A Haas,  Armin Flubacher,  Lawrence R Charnas,  Gökhan Uyanik,  Ulrich Frank,  Eva Klopocki,  William B Dobyns,  Kerstin Kutsche
Affiliations

Affiliation

  • 1 Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, 20246 Hamburg, Germany.
PMID: 19165920 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.

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