[en] 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.
Disciplines :
Neurology Pediatrics
Author, co-author :
Bergmann, C.; Department of Human Genetics, Aachen University of Technology, Aachen, Germany, Department of Human Genetics, Aachen University, Pauwelsstraße 30, D-52074 Aachen, Germany
Zerres, K.; Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Senderek, J.; Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Rudnik-Schöneborn, S.; Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Eggermann, T.; Department of Human Genetics, Aachen University of Technology, Aachen, Germany
Häusler, M.; Department of Neuropediatrics, Aachen University of Technology, Aachen, Germany
Mull, M.; Department of Neuroradiology, Aachen University of Technology, Aachen, Germany
RAMAEKERS, Vincent ; Department of Neuropediatrics, Aachen University of Technology, Aachen, Germany
Language :
English
Title :
Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia
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