Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
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.
Feldmann
Delphine
D
Service de Biochimie et de Biologie Moléculaire, Hôpital d'Enfants Armand-Trousseau, INSERM U587, AP-HP, Paris, France.
Denoyelle
Françoise
F
Chauvin
Pierre
P
Garabédian
Eréa-Noël
EN
Couderc
Rémy
R
Odent
Sylvie
S
Joannard
Alain
A
Schmerber
Sébastien
S
Delobel
Bruno
B
Leman
Jacques
J
Journel
Hubert
H
Catros
Hélène
H
Le Maréchal
Cédric
C
Dollfus
Hélène
H
Eliot
Marie-Madeleine
MM
Delaunoy
Jean-Pierre
JP
David
Albert
A
Calais
Catherine
C
Drouin-Garraud
Valérie
V
Obstoy
Marie-Françoise
MF
Bouccara
Didier
D
Sterkers
Olivier
O
Huy
Patrice Tran Ba
PT
Goizet
Cyril
C
Duriez
Françoise
F
Fellmann
Florence
F
Hélias
Jocelyne
J
Vigneron
Jacqueline
J
Montaut
Bétina
B
Lewin
Patricia
P
Petit
Christine
C
Marlin
Sandrine
S
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
D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26