Fiche publication
Date publication
février 2015
Auteurs
Membres identifiés du Cancéropôle Est :
Pr PHILIPPE Christophe
Tous les auteurs :
Valduga M, Philippe C, Lambert L, Bach-Segura P, Schmitt E, Masutti JP, Francois B, Pinaud P, Vibert M, Jonveaux P
Lien Pubmed
Résumé
WWOX has been recently implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12) and severe early-onset epileptic encephalopathy (EOEE). By array comparative genomic hybridization, we identified a 0.6 Mb homozygous deletion in 16q23.1 in a fetus presenting with brain anomalies. His older sister who died at the age of 22 months from an EOEE was also homozygous for the copy number variations in 16q23.1. This deletion includes the first six exons of WWOX and results in a null genotype in homozygous patients. This family gives additional support for the implication of WWOX in severe EOEEs. We report for the first time prenatal ultrasound findings in a fetus with a WWOX-null genotype. Our study expands the range of brain abnormalities in WWOX-related EOEEs. This additional family confirms the genotype-phenotype correlation with WWOX-null alleles associated with the most severe form of WWOX-related epileptic encephalopathy with premature death.Journal of Human Genetics advance online publication, 26 February 2015; doi:10.1038/jhg.2015.17.
Référence
J Hum Genet. 2015 Feb 26
