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Brain Advance Access originally published online on May 21, 2003
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Brain, Vol. 126, No. 7, 1537-1544, July 2003
© 2003 Guarantors of Brain
doi: 10.1093/brain/awg173

Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia

Carsten Bergmann1, Klaus Zerres1, Jan Senderek1, Sabine Rudnik-Schöneborn1, Thomas Eggermann1, Martin Häusler2, Michael Mull3 and Vincent T. Ramaekers2

Departments of 1 Human Genetics, 2 Neuropediatrics and 3 Neuroradiology, Aachen University of Technology, Aachen, Germany

Correspondence to: Carsten Bergmann, MD, Department of Human Genetics, Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany E-mail:cbergmann{at}ukaachen.de

We identified an oligophrenin 1 (OPHN1) gene mutation in a family with five brothers affected by a recognizable pattern of clinical and neuroradiological hallmarks. The distinctive phenotype comprised moderate to severe mental retardation, myoclonic-astatic epilepsy, ataxia, strabismus and hypogenitalism. Neuroimaging displayed fronto-temporal atrophy with rostral enlargement of the lateral ventricles, lower vermian agenesis and asymmetric cerebellar hypoplasia. Mutation analysis of the OPHN1 gene on Xq12 disclosed a genomic deletion of exon 19 causing a frameshift. Notably, OPHN1 mutations have been previously reported as a rare cause of non-syndromic X-linked mental retardation. Our findings, however, indicate that OPHN1 mutations result in a recognizable syndrome. In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy.


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