Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

• Published in: Human molecular genetics Vol. 6; no. 12; pp. 2173 - 2177
• Main Authors: Denoyelle, Françoise, Weil, Dominique, Maw, Marion A., Wilcox, Stephen A., Lench, Nicholas J., Allen-Powell, Denise R., Osborn, Amelia H., Dahl, Hans-Henrik M., Middleton, Anna, Houseman, Mark J., Dodé, Catherine, Marlin, Sandrine, Boulila-ElGaïed, Amel, Grati, Mohammed, Ayadi, Hammadi, BenArab, Saïda, Bitoun, Pierre, Lina-Granade, Geneviève, Godet, Jacqueline, Mustapha, Mirna, Loiselet, Jacques, El-Zir, Élie, Aubois, Anne, Joannard, Alain, Levilliers, Jacqueline, Garabédian, Éréa-Noël, Mueller, Robert F., McKinlay Gardner, R. J., Petit, Christine
• Format: Journal Article
• Language: English
• Published: Oxford Oxford University Press 01.11.1997
• Subjects: Australia - epidemiology; Biological and medical sciences; Connexin 26; Connexins - genetics; Consanguinity; Deafness - epidemiology; Deafness - genetics; Ear, auditive nerve, cochleovestibular tract, facial nerve: diseases, semeiology; France - epidemiology; Genetic Linkage; Humans; Lebanon - epidemiology; Medical sciences; New Zealand - epidemiology; Non tumoral diseases; Otorhinolaryngology. Stomatology; Prevalence; Sequence Deletion; Tunisia - epidemiology; United Kingdom - epidemiology; Genetic mapping; Human; Linkage; Family study; Auditory disorder; Chromosome D13; Gap junction; Hearing loss; Connexin; Gene; ENT disease; Genetics; Inbred; Mutation

Prelingual non-syndromic (isolated) deafness is the most frequent hereditary sensory defect. In >80% of the cases, the mode of transmission is autosomal recessive. To date, 14 loci have been identified for the recessive forms (DFNB loci). For two of them, DFNB1 and DFNB2, the genes responsible ha...