Article
GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
Audiology & neuro-otology - 1 Jan 2010
Dalamón Viviana, Lotersztein Vanesa, Béhèran Agustina, Lipovsek Marcela, Diamante Fernando, Pallares Norma, Francipane Liliana, Frechtel Gustavo, Paoli Bibiana, Mansilla Enrique, Diamante Vicente, Elgoyhen Ana Belén
Abstract excerpt
Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the...
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