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

Najm, Juliane; Horn, Denise; Wimplinger, Isabella; Golden, Jeffrey A.; Chizhikov, Victor V.; 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

doi:10.1038/ng.194

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

Najm, J., Horn, D., Wimplinger, I., Golden, J. A., Chizhikov, V. V., Sudi, J., et al. (2009). Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nature Genetics, 40(9), 1065-1067. doi:10.1038/ng.194.

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Item Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7D22-9 Version Permalink: https://hdl.handle.net/11858/00-001M-0000-0010-7D23-7

Genre: Journal Article

Alternative Title : Nat Genet

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Najm, Juliane, Author
Horn, Denise, Author
Wimplinger, Isabella, Author
Golden, Jeffrey A., Author
Chizhikov, Victor V., Author
Sudi, Jyotsna, Author
Christian, Susan L., Author
Ullmann, Reinhard¹, Author
Kuechler, Alma, Author
Haas, Carola A., Author
Flubacher, Armin, Author
Charnas, Lawrence R., Author
Uyanik, Gökhan, Author
Frank, Ulrich, Author
Klopocki, Eva², Author
Dobyns, William B., Author
Kutsche, Kerstin, Author

Affiliations:
1Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645
2Research Group Development & Disease (Head: Stefan Mundlos), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433557

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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.

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Language(s): eng - English

Dates: Date issued: 2009-09

Publication Status: Issued

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Identifiers: eDoc: 473327
DOI: 10.1038/ng.194
URI: http://www.nature.com/ng/journal/v40/n9/pdf/ng.194.pdf

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Title: Nature Genetics

Alternative Title : Nat Genet

Source Genre: Journal

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Pages: - Volume / Issue: 40 (9) Sequence Number: - Start / End Page: 1065 - 1067 Identifier: ISSN: 1061-4036