Premium
GJB2 (connexin 26) mutations are not a major cause of hearing loss in the Indonesian population
Author(s) -
Snoeckx Rikkert L.,
Djelantik Bulantrisna,
Van Laer Lut,
Van de Heyning Paul,
Van Camp Guy
Publication year - 2005
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30726
Subject(s) - hearing loss , connexin , genetics , congenital hearing loss , indonesian , sensorineural hearing loss , population , mutation , biology , gene , disease , audiology , medicine , linguistics , intracellular , philosophy , environmental health , gap junction
Although hereditary hearing loss is a very heterogeneous disorder, variants in one gene, GJB2 (connexin 26), account for up to 50% of autosomal recessive nonsyndromal sensorineural hearing loss in most populations. This study investigates the contribution of GJB2 to autosomal recessive nonsyndromal hearing loss in the Indonesian population. We performed DNA sequence analysis in 120 patients with profound early childhood nonsyndromal hearing loss and in 100 control individuals and identified three novel variations resulting in amino acid substitutions (p.Gly4Asp, p.Thr5Ala, and p.Gly160Arg). Although we proved that p.Gly4Asp was not disease‐causing, the pathological nature of p.Thr5Ala and p.Gly160Arg could not be determined. No recurrent disease‐causing mutation could be detected in this Indonesian population. These findings are in contrast with the results obtained in other populations where GJB2 is a major cause of congenital recessive hearing loss. © 2005 Wiley‐Liss, Inc.