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- Title
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum.
- Authors
Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor C.; 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
- 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.
- Subjects
TRANSCRIPTION factors; MICROCEPHALY; SCAFFOLDING; CELL transformation; CEREBRAL cortex; INTELLECTUAL disabilities; BRAIN stem; PROTEINS
- Publication
Nature Genetics, 2008, Vol 40, Issue 9, p1065
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/ng.194