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  • 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.

Nature genetics (2009-01-24)
Juliane Najm, 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
PMID19165920
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.