Article
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
Brain : a journal of neurology - 1 Feb 2014
Mallaret Martial, Synofzik Matthis, Lee Jaeho, Sagum Cari A, Mahajnah Muhammad, Sharkia Rajech, Drouot Nathalie, Renaud Mathilde, Klein Fabrice A C, Anheim Mathieu, Tranchant Christine, Mignot Cyril, Mandel Jean-Louis, Bedford Mark, Bauer Peter, Salih Mustafa A, Schüle Rebecca, Schöls Ludger, Aldaz C Marcelo, Koenig Michel
Abstract excerpt
We previously localized a new form of recessive ataxia with generalized tonic-clonic epilepsy and mental retardation to a 19 Mb interval in 16q21-q23 by homozygosity mapping of a large consanguineous Saudi Arabian family. We now report the identification by whole exome sequencing of the missense mutation changing proline 47 into threonine in the first WW domain of the WW domain containing oxidoreductase gene,...
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