CASK基因的突变会导致一种X连锁的脑畸形表型，伴有小头畸形以及脑干和小脑发育不全。
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
作者信息
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
机构信息
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, 20246 Hamburg, Germany.
出版信息
Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.
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.
CASK是一种多结构域支架蛋白，它与转录因子TBR1相互作用，并调节参与皮质发育的基因（如RETN）的表达。在此，我们描述了一种由CASK突变引起的先前未报道的X连锁脑畸形综合征。所有五名携带CASK突变的受影响个体均患有先天性或出生后小头畸形、不成比例的脑干和小脑发育不全，以及严重智力迟钝。
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