GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Hossein Najmabadi; Robert A Cucci; Solmaz Sahebjam; Nafiseh Kouchakian; Mohammad Farhadi; Kimia Kahrizi; Sanaz Arzhangi; Naiimeh Daneshmandan; Khalil Javan; Richard J H Smith

doi:10.1002/humu.9033

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GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Journal article

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GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss

Hossein Najmabadi, Robert A Cucci, Solmaz Sahebjam, Nafiseh Kouchakian, Mohammad Farhadi, Kimia Kahrizi, Sanaz Arzhangi, Naiimeh Daneshmandan, Khalil Javan and Richard J H Smith

Human mutation, Vol.19(5), pp.572-572

05/2002

DOI: 10.1002/humu.9033

PMID: 11968091

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Abstract

Hereditary hearing loss (HHL) is an extremely common disorder. About 70% of HHL is non-syndromic, with autosomal recessive forms accounting for approximately 85% of the genetic load. Although very heterogeneous, the most common cause of HHL in many different world populations is mutations of GJB2, a gene that encodes the gap junction protein connexin 26 (Cx26). This study investigates the contribution of GJB2 to the autosomal recessive non-syndromic deafness (ARNSD) load in the Iranian population. One hundred sixty eight persons from 83 families were studied. GJB2-related deafness was diagnosed in 9 families (4, 35delG homozygotes; 3, 35delG compound heterozygotes; 1, W24X homozygote; 1, non-35delG compound heterozygote). The carrier frequency of the 35delG allele in this population was approximately 1% (1/83). Because the relative frequency of Cx26 mutations is much less than in the other populations, it is possible that mutations in other genes play a major role in ARNSD in Iran.

Connexin 26

Hearing Disorders - genetics

Genes, Recessive - genetics

Humans

Connexins - genetics

Iran - epidemiology

Mutation - genetics

Genetic Testing - methods

Genetic Carrier Screening - methods

Syndrome

Details

Title: Subtitle: GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss
Creators: Hossein Najmabadi - Genetic Research Center, Welfare Science & Rehabilitation University, Tehran, Iran. Hnajm@mavara.com
Robert A Cucci
Solmaz Sahebjam
Nafiseh Kouchakian
Mohammad Farhadi
Kimia Kahrizi
Sanaz Arzhangi
Naiimeh Daneshmandan
Khalil Javan
Richard J H Smith
Resource Type: Journal article
Publication Details: Human mutation, Vol.19(5), pp.572-572
DOI: 10.1002/humu.9033
PMID: 11968091
NLM abbreviation: Hum Mutat
ISSN: 1059-7794
eISSN: 1098-1004
Publisher: United States
Grant note: R01-DC02842 / NIDCD NIH HHS
Language: English
Date published: 05/2002
Academic Unit: Roy J. Carver Department of Biomedical Engineering; Molecular Physiology and Biophysics; Anatomy and Cell Biology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Otolaryngology; Internal Medicine
Record Identifier: 9984006440102771

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