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Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis
Author(s) -
Feldmann Delphine,
Denoyelle Françoise,
Chauvin Pierre,
Garabédian EréaNoël,
Couderc Rémy,
Odent Sylvie,
Joannard Alain,
Schmerber Sébastien,
Delobel Bruno,
Leman Jacques,
Journel Hubert,
Catros Hélène,
Maréchal Cédric Le,
Dollfus Hélène,
Eliot MarieMadeleine,
Delaunoy JeanPierre,
David Albert,
Calais Catherine,
DrouinGarraud Valérie,
Obstoy MarieFrançoise,
Bouccara Didier,
Sterkers Olivier,
Huy Patrice Tran Ba,
Goizet Cyril,
Duriez Françoise,
Fellmann Florence,
Hélias Jocelyne,
Vigneron Jacqueline,
Montaut Bétina,
Lewin Patricia,
Petit Christine,
Marlin Sandrine
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20588
Subject(s) - genetics , phenotype , mutation , hearing loss , gene , genotype , biology , compound heterozygosity , medicine , audiology
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. © 2004 Wiley‐Liss, Inc.