title: A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?
abstract: Congenital profound deafness has a known genetic origin in more than 50% of all cases. The majority of the non syndromic hearing loss (NSHL) show an autosomal recessive inheritance. Mutations in the GJB2 gene (connexin 26) account for more than 50% of the recessive non syndromic deafness (DFNB1) among 30 loci. Other connexin genes have been more rarely involved and attention was given here to the GJB6 gene (connexin 30). We show that homozygous deletion of a minimal 150 kb region encompassing this gene causes NSHL. More strikingly, association of this deletion in trans of the GJB2 gene 35delG or E47X mutations is also associated with NSHL.
authors.affiliation: Laboratoire de Génétique Moléculaire, 34093 Montpellier cedex, France.
authors.forename: Nathalie
authors.initials: N
authors.lastname: Pallares-Ruiz
authors.forename: Patricia
authors.initials: P
authors.lastname: Blanchet
authors.forename: Michel
authors.initials: M
authors.lastname: Mondain
authors.forename: Mireille
authors.initials: M
authors.lastname: Claustres
authors.forename: Anne-Francoise
authors.initials: AF
authors.lastname: Roux
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D017353:Gene Deletion; D005808:Genes, Recessive; D006801:Humans
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26