Article
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study.
American journal of human genetics - 1 Dec 2003
Del Castillo Ignacio, Moreno-Pelayo Miguel A, Del Castillo Francisco J, Brownstein Zippora, Marlin Sandrine, Adina Quint, Cockburn David J, Pandya Arti, Siemering Kirby R, Chamberlin G Parker, Ballana Ester, Wuyts Wim, Maciel-Guerra Andréa Trevas, Alvarez Araceli, Villamar Manuela, Shohat Mordechai, Abeliovich Dvorah, Dahl Hans-Henrik M, Estivill Xavier, Gasparini Paolo, Hutchin Tim, Nance Walter E, Sartorato Edi L, Smith Richard J H, Van Camp Guy, Avraham Karen B, Petit Christine, Moreno Felipe
Abstract excerpt
Mutations in GJB2, the gene encoding connexin-26 at the DFNB1 locus on 13q12, are found in as many as 50% of subjects with autosomal recessive, nonsyndromic prelingual hearing impairment. However, genetic diagnosis is complicated by the fact that 10%-50% of affected subjects with GJB2 mutations carry only one mutant allele. Recently, a deletion truncating the GJB6 gene (encoding connexin-30), near GJB2 on 13q12,...
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