Article
Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene.
European journal of human genetics : EJHG - 1 Apr 2009
Hilgert Nele, Huentelman Matthew J, Thorburn Ashley Q, Fransen Erik, Dieltjens Nele, Mueller-Malesinska Malgorzata, Pollak Agnieszka, Skorka Agata, Waligora Jaroslaw, Ploski Rafal, Castorina Pierangela, Primignani Paola, Ambrosetti Umberto, Murgia Alessandra, Orzan Eva, Pandya Arti, Arnos Kathleen, Norris Virginia, Seeman Pavel, Janousek Petr, Feldmann Delphine, Marlin Sandrine, Denoyelle Françoise, Nishimura Carla J, Janecke Andreas, Nekahm-Heis Doris, Martini Alessandro, Mennucci Elena, Tóth Timea, Sziklai Istvan, Del Castillo Ignacio, Moreno Felipe, Petersen Michael B, Iliadou Vasiliki, Tekin Mustafa, Incesulu Armagan, Nowakowska Ewa, Bal Jerzy, Van de Heyning Paul, Roux Anne-Françoise, Blanchet Catherine, Goizet Cyril, Lancelot Guenaëlle, Fialho Graça, Caria Helena, Liu Xue Zhong, Xiaomei Ouyang, Govaerts Paul, Grønskov Karen, Hostmark Karianne, Frei Klemens, Dhooge Ingeborg, Vlaeminck Stephen, Kunstmann Erdmute, Van Laer Lut, Smith Richard J H, Van Camp Guy
Abstract excerpt
Hereditary hearing loss (HL) is a very heterogeneous trait, with 46 gene identifications for non-syndromic HL. Mutations in GJB2 cause up to half of all cases of severe-to-profound congenital autosomal recessive non-syndromic HL, with 35delG being the most frequent mutation in Caucasians. Although a genotype-phenotype correlation has been established for most GJB2 genotypes, the HL of 35delG homozygous patients...
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