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.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Brain Stem / abnormalities*
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Cerebellum / abnormalities*
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Child, Preschool
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Ear / abnormalities
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Female
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Genetic Diseases, X-Linked / genetics*
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Guanylate Kinases / genetics*
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Humans
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Male
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Mental Retardation, X-Linked / genetics
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Microcephaly / genetics*
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Mutation*
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Reelin Protein
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Syndrome
Substances
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Reelin Protein
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CASK kinases
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Guanylate Kinases
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RELN protein, human