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Brief Communication

Nature Genetics 40, 1065–1067 (1 September 2008) | doi:10.1038/ng.194

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

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 , G|[ouml]|khan Uyanik , Ulrich Frank , Eva Klopocki , William B Dobyns & Kerstin Kutsche

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.