Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Archive ouverte

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 | Maréchal, Cédric Le | 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

Edité par CCSD ; Wiley -

International audience. 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.

• Description
• Sujet/Public
• Outil
• Outil d'anticipation
• Mémoire et thèse
• Gestion