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GJB2 mutations: Passage through Iran
Author(s) -
Najmabadi Hossein,
Nishimura Carla,
Kahrizi Kimia,
Riazalhosseini Yasser,
Malekpour Mahdi,
Daneshi Ahmad,
Farhadi Mohammad,
Mohseni Marzieh,
Mahdieh Nejat,
Ebrahimi Ahmad,
Bazazzadegan Niloofar,
Naghavi Anoosh,
Avenarius Matthew,
Arzhangi Sanaz,
Smith Richard J.H.
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.30576
Subject(s) - proband , genetics , founder effect , hearing loss , mutation , chromosome , biology , genetic heterogeneity , gene , audiology , medicine , haplotype , genotype , phenotype
Hereditary hearing loss (HHL) is a very common disorder. When inherited in an autosomal recessive manner, it typically presents as an isolated finding. Interestingly and unexpectedly, in spite of extreme heterogeneity, mutations in one gene, GJB2 , are the most common cause of congenital severe‐to‐profound deafness in many different populations. In this study, we assessed the contributions made by GJB2 mutations and chromosome 13 g.1777179_2085947del (the deletion more commonly known as del ( GJB6 ‐D13S1830) that includes a portion of GJB6 and is hereafter called Δ( GJB6 ‐D13S1830)) to the autosomal recessive non‐syndromic deafness (ARNSD) genetic load in Iran. Probands from 664 different nuclear families were investigated. GJB2 ‐related deafness was found in 111 families (16.7%). The carrier frequency of the 35delG mutation showed a geographic variation that is supported by studies in neighboring countries. Δ( GJB6 ‐D13S1830) was not found. Our prevalence data for GJB2 ‐related deafness reveal a geographic pattern that mirrors the south‐to‐north European gradient and supports a founder effect in southeastern Europe. © 2005 Wiley‐Liss, Inc.