Article
Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: genotypic and phenotypic analysis.
American journal of medical genetics. Part A - 15 Jun 2004
Feldmann Delphine, Denoyelle Françoise, Chauvin Pierre, Garabédian Eréa-Noël, Couderc Rémy, Odent Sylvie, Joannard Alain, Schmerber Sébastien, Delobel Bruno, Leman Jacques, Journel Hubert, Catros Hélène, Le Maréchal Cédric, Dollfus Hélène, Eliot Marie-Madeleine, Delaunoy Jean-Pierre, David Albert, Calais Catherine, Drouin-Garraud Valérie, Obstoy Marie-Françoise, 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
Abstract excerpt
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...
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