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
; Dobyns, William B ; Kutsche, Kerstin 
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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