GJB2 mutations: Passage through Iran

Najmabadi, H. and Nishimura, C. and Kahrizi, K. and Riazalhosseini, Y. and Malekpour, M. and Daneshi, A. and Farhadi, M. and Mohseni, M. and Mahdieh, N. and Ebrahimi, A. and Bazazzadegan, N. and Naghavi, A. and Avenarius, M. and Arzhangi, S. and Smith, R.J.H. (2005) GJB2 mutations: Passage through Iran. American Journal of Medical Genetics, 133 A (2). pp. 132-137.

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American Journal of Medical Genetics Part A Volume 133A issue 2 2005 [doi 10.1002_ajmg.a.30576] Hossein Najmabadi; Carla Nishimura; Kimia Kahrizi; Yasser Riazal -- GJB2 mutations- Passage through Ir.pdf

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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.17771792085947del (the deletion more commonly known as del (GJB6-D13S1830) that includes a portion of GJB6 and is hereafter called �(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. �(GJB6-B13S1830) 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.

Item Type: Article
Additional Information: cited By 61
Uncontrolled Keywords: connexin 26, article; autosomal recessive disorder; autosomal recessive non syndromic deafness; chromosome deletion 13; controlled study; family; gene frequency; gene mutation; genetic analysis; genetic load; geographic distribution; hearing impairment; heterozygote; human; Iran; prevalence; priority journal, Connexins; DNA; DNA Mutational Analysis; Family Health; Female; Gene Frequency; Genetic Screening; Genotype; Geography; Hearing Loss; Humans; Iran; Male; Mutation; Prevalence
Subjects: WV Otolaryngology
Depositing User: Librarian Farzaneh Dini
Date Deposited: 04 May 2019 05:30
Last Modified: 04 May 2019 05:30
URI: http://eprints.iums.ac.ir/id/eprint/12191

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