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

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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Najm J,Horn D,Wimplinger I,Golden JA,Chizhikov VV,Sudi J,Christian SL,Ullmann R,Kuechler A,Haas CA,Flubacher A,Charnas LR,Uyanik G,Frank U,Klopocki E,Dobyns WB,Kutsche K

doi

10.1038/ng.194

subject

Has Abstract

pub_date

2008-09-01 00:00:00

pages

1065-7

issue

9

eissn

1061-4036

issn

1546-1718

journal_volume

40

pub_type

杂志文章

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