Journal
NATURE GENETICS
Volume 40, Issue 9, Pages 1065-1067Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ng.194
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Funding
- Deutsche Forschungsgemeinschaft [KU 1240/3-2]
- US National Institutes of Health/National Institute of Neurological Disorders and Stroke [R01-NS050375]
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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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