Article
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
Nature genetics - 1 Sept 2008
Najm Juliane, Horn Denise, Wimplinger Isabella, Golden Jeffrey A, Chizhikov Victor V, Sudi Jyotsna, Christian Susan L, Ullmann Reinhard, Kuechler Alma, Haas Carola A, Flubacher Armin, Charnas Lawrence R, Uyanik Gökhan, Frank Ulrich, Klopocki Eva, Dobyns William B, Kutsche Kerstin
Abstract excerpt
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...
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