Brief Communication abstract
Nature Genetics 40, 1065 - 1067 (2008)
Published online: 10 August 2008 | Corrected online: 29 October 2008 | doi:10.1038/ng.194
There is a Corrigendum (November 2008) associated with this Brief Communication.
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
Juliane Najm1,13, Denise Horn2,13, Isabella Wimplinger1, Jeffrey A Golden3, Victor V Chizhikov4, Jyotsna Sudi4, Susan L Christian4, Reinhard Ullmann5, Alma Kuechler6, Carola A Haas7, Armin Flubacher7, Lawrence R Charnas8, Gökhan Uyanik9, Ulrich Frank10, Eva Klopocki2, William B Dobyns4,11,12 & Kerstin Kutsche1
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.
- Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, 20246 Hamburg, Germany.
- Institut für Medizinische Genetik, Charité Universitätsmedizin, 13353 Berlin, Germany.
- Department of Pathology, Children's Hospital of Philadelphia and the University of Pennsylvania School of Medicine, Philadelphia, Pennsylvania 19104, USA.
- Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
- Max-Planck-Institut für Molekulare Genetik, 14195 Berlin, Germany.
- Institut für Humangenetik, Universitätsklinikum Essen, 45122 Essen, Germany.
- Experimental Epilepsy Research Group, Neurocenter, University of Freiburg, 79106 Freiburg, Germany.
- Division of Clinical Neuroscience, Department of Pediatrics, University of Minnesota, Minneapolis, Minnesota 55455, USA.
- Department of Neurology, University of Regensburg, 93053 Regensburg, Germany.
- Sozialpädiatrisches Zentrum, Städtisches Klinikum Braunschweig, 38118 Braunschweig, Germany.
- Departments of Neurology, University of Chicago, Chicago, Illinois 60637, USA.
- Department of Pediatrics, University of Chicago, Chicago, Illinois 60637, USA.
- These authors contributed equally to this work.
Correspondence to: Kerstin Kutsche1 e-mail: kkutsche@uke.de
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