title: Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
abstract: Recent investigations identified a large deletion of the GJB6 gene in trans to a mutation of GJB2 in deaf patients. We looked for GJB2 mutations and GJB6 deletions in 255 French patients presenting with a phenotype compatible with DFNB1. 32% of the patients had biallelic GJB2 mutations and 6% were a heterozygous for a GJB2 mutation and a GJB6 deletion. Biallelic GJB2 mutations and combined GJB2/GJB6 anomalies were more frequent in profoundly deaf children. Based on these results, we are now assessing GJB6 deletion status in cases of prelingual hearing loss.
authors.affiliation: Service de Biochimie et de Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, INSERM U587, AP-HP, Paris, France.
authors.forename: Delphine
authors.initials: D
authors.lastname: Feldmann
authors.forename: Françoise
authors.initials: F
authors.lastname: Denoyelle
authors.forename: Pierre
authors.initials: P
authors.lastname: Chauvin
authors.forename: Eréa-Noël
authors.initials: EN
authors.lastname: Garabédian
authors.forename: Rémy
authors.initials: R
authors.lastname: Couderc
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Alain
authors.initials: A
authors.lastname: Joannard
authors.forename: Sébastien
authors.initials: S
authors.lastname: Schmerber
authors.forename: Bruno
authors.initials: B
authors.lastname: Delobel
authors.forename: Jacques
authors.initials: J
authors.lastname: Leman
authors.forename: Hubert
authors.initials: H
authors.lastname: Journel
authors.forename: Hélène
authors.initials: H
authors.lastname: Catros
authors.forename: Cédric
authors.initials: C
authors.lastname: Le Maréchal
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
authors.forename: Marie-Madeleine
authors.initials: MM
authors.lastname: Eliot
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Delaunoy
authors.forename: Albert
authors.initials: A
authors.lastname: David
authors.forename: Catherine
authors.initials: C
authors.lastname: Calais
authors.forename: Valérie
authors.initials: V
authors.lastname: Drouin-Garraud
authors.forename: Marie-Françoise
authors.initials: MF
authors.lastname: Obstoy
authors.forename: Didier
authors.initials: D
authors.lastname: Bouccara
authors.forename: Olivier
authors.initials: O
authors.lastname: Sterkers
authors.forename: Patrice Tran Ba
authors.initials: PT
authors.lastname: Huy
authors.forename: Cyril
authors.initials: C
authors.lastname: Goizet
authors.forename: Françoise
authors.initials: F
authors.lastname: Duriez
authors.forename: Florence
authors.initials: F
authors.lastname: Fellmann
authors.forename: Jocelyne
authors.initials: J
authors.lastname: Hélias
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Vigneron
authors.forename: Bétina
authors.initials: B
authors.lastname: Montaut
authors.forename: Patricia
authors.initials: P
authors.lastname: Lewin
authors.forename: Christine
authors.initials: C
authors.lastname: Petit
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marlin
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D017353:Gene Deletion; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D010641:Phenotype
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26