GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

doi:10.1001/archotol.131.6.481

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Article

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

Archives of otolaryngology--head & neck surgery - 1 Jun 2005

Marlin Sandrine, Feldmann Delphine, Blons Hélène, Loundon Natalie, Rouillon Isabelle, Albert Sébastien, Chauvin Pierre, Garabédian Eréa-Noël, Couderc Rémy, Odent Sylvie, Joannard Alain, Schmerber Sébastien, Delobel Bruno, Leman Jacques, Journel Hubert, Catros Hélène, Lemarechal Cédric, Dollfus Hélène, Eliot Marie-Madeleine, Delaunoy Jean-Louis, David Albert, Calais Catherine, Drouin-Garraud Valérie, Obstoy Marie-Françoise, Goizet Cyril, Duriez Françoise, Fellmann Florence, Hélias Jocelyne, Vigneron Jacqueline, Montaut Bettina, Matin-Coignard Dominique, Faivre Laurence, Baumann Clarisse, Lewin Patricia, Petit Christine, Denoyelle Françoise

Abstract excerpt

OBJECTIVES: To analyze the clinical features of hearing impairment and to search for correlations with the genotype in patients with DFNB1. DESIGN: Case series. SETTING: Collaborative study in referral centers, institutional practice. Patients A total of 256 hearing-impaired patients selected on the basis of the presence of biallelic mutations in GJB2 or the association of 1 GJB2 mutation with the GJB6 deletion...

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Identifiers

PMID: 15967879
DOI: 10.1001/archotol.131.6.481

Genes

GJB2
GJB6

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