Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194.

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

Author information

1
Institut f├╝r Humangenetik, Universit├Ątsklinikum Hamburg-Eppendorf, 20246 Hamburg, Germany.

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.

PMID:
19165920
DOI:
10.1038/ng.194
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center