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

Genre: Zeitschriftenartikel

Alternativer Titel : Nat Genet

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

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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Zusammenfassung: 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.