WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

doi:10.1136/jmedgenet-2014-102748

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Article

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Journal of medical genetics - 1 Jan 2015

Mignot Cyril, Lambert Laetitia, Pasquier Laurent, Bienvenu Thierry, Delahaye-Duriez Andrée, Keren Boris, Lefranc Jérémie, Saunier Aline, Allou Lila, Roth Virginie, Valduga Mylène, Moustaïne Aissa, Auvin Stéphane, Barrey Catherine, Chantot-Bastaraud Sandra, Lebrun Nicolas, Moutard Marie-Laure, Nougues Marie-Christine, Vermersch Anne-Isabelle, Héron Bénédicte, Pipiras Eva, Héron Delphine, Olivier-Faivre Laurence, Guéant Jean-Louis, Jonveaux Philippe, Philippe Christophe

Abstract excerpt

BACKGROUND: Homozygous mutations in WWOX were reported in eight individuals of two families with autosomal recessive spinocerebellar ataxia type 12 and in two siblings with infantile epileptic encephalopathy (IEE), including one who deceased prior to DNA sampling. METHODS: By combining array comparative genomic hybridisation, targeted Sanger sequencing and next generation sequencing, we identified five further...

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PMID: 25411445
DOI: 10.1136/jmedgenet-2014-102748

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WWOX

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