Journal article
GJB2 mutations: passage through Iran
American journal of medical genetics. Part A, Vol.133A(2), pp.132-137
03/01/2005
DOI: 10.1002/ajmg.a.30576
PMID: 15666300
Abstract
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 Delta(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. Delta(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.
Details
- Title: Subtitle
- GJB2 mutations: passage through Iran
- Creators
- Hossein Najmabadi - Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran. hnajm@mavara.comCarla NishimuraKimia KahriziYasser RiazalhosseiniMahdi MalekpourAhmad DaneshiMohammad FarhadiMarzieh MohseniNejat MahdiehAhmad EbrahimiNiloofar BazazzadeganAnoosh NaghaviMatthew AvenariusSanaz ArzhangiRichard J H Smith
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A, Vol.133A(2), pp.132-137
- DOI
- 10.1002/ajmg.a.30576
- PMID
- 15666300
- NLM abbreviation
- Am J Med Genet A
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- United States
- Grant note
- R01 DC 02842 / NIDCD NIH HHS
- Language
- English
- Date published
- 03/01/2005
- 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
- 9984006442102771
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