1. Large deletion of theGJB6gene in deaf patients heterozygous for theGJB2gene mutation: Genotypic and phenotypic analysis
- Author
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Jacques Leman, Catherine Calais, Valérie Drouin-Garraud, Christine Petit, Cédric Le Maréchal, Bétina Montaut, Bruno Delobel, Pierre Chauvin, Patricia Lewin, Sandrine Marlin, Didier Bouccara, Hélène Catros, Marie-Françoise Obstoy, Marie-Madeleine Eliot, Sébastien Schmerber, Hélène Dollfus, Patrice Tran Ba Huy, Jacqueline Vigneron, Delphine Feldmann, Albert David, Erea-Noel Garabedian, Alain Joannard, Françoise Duriez, Rémy Couderc, Cyril Goizet, Olivier Sterkers, Françoise Denoyelle, J. P. Delaunoy, Hubert Journel, Sylvie Odent, Jocelyne Hélias, and Florence Fellmann
- Subjects
Genetics ,Mutation ,biology ,Hearing loss ,Heterozygote advantage ,medicine.disease_cause ,Phenotype ,Gjb2 gene ,Genotype ,otorhinolaryngologic diseases ,medicine ,biology.protein ,medicine.symptom ,Gene ,Genetics (clinical) ,GJB6 - 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.
- Published
- 2004
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