Journal article
The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study
International journal of pediatric otorhinolaryngology, Vol.76(8), pp.1164-1174
08/2012
DOI: 10.1016/j.ijporl.2012.04.026
PMID: 22695344
Abstract
Mutations in GJB2, encoding connexin 26 (CX26), are causally related to autosomal recessive form of non-syndromic hearing loss (NSHL) at the DFNB1 locus and autosomal dominant NSHL at the DFNA3 locus. In this study, we investigated the prevalence of GJB2 mutations in the Iranian deaf population.
A total of 2322 deaf probands presenting the ethnically diverse Iranian population were screened for variants in GJB2. All persons were first screened for the c.35delG mutation, as this variant is the most prevalent GJB2-deafness causing mutation in the Iranian population. In all persons carrying zero or one c.35delG allele, exons 1 and 2 were then sequenced.
In total, 374 (∼16%) families segregated GJB2-related deafness caused by 45 different mutations and 5 novel variants. The c.35delG mutation was most commonly identified and accounts for ∼65% of the GJB2 mutations found in population studied.
Our data also show that there is a gradual decrease in the frequency of the c.35delG mutation and of GJB2-related deafness in general in a cline across Iran extending from the northwest to southeast.
Details
- Title: Subtitle
- The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss—A twelve year study
- Creators
- Niloofar Bazazzadegan - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranNooshin Nikzat - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranZohreh Fattahi - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranCarla Nishimura - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, USANicole Meyer - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, USAShima Sahraian - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranPayman Jamali - Genetic Counseling Center, Ali Akbar Welfare Organization, Shahrood, Semnan, IranMojgan Babanejad - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranAtie Kashef - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranHilda Yazdan - Genetic Counseling Center, Shahid Fayazbakhsh Clinic, Kermanshah, IranFarahnaz Sabbagh Kermani - Department of Genetics, Kerman Welfare Organization, Kerman, IranMaryam Taghdiri - Genetic Counseling Center, Shiraz Welfare Organization, Fars, IranBatool Azadeh - Welfare Counseling Center, Isfahan, IranFaezeh Mojahedi - Mashhad Genetic Counseling Center, Mashhad, Khorasan, IranAtefeh Khoshaeen - Welfare Counseling Center, Mazandaran, IranHaleh Habibi - Genetic Counseling Center, Family Health Clinic, Mobasher Hospital, Hamedan, IranFarahnaz Reyhanifar - Alameh Amini Counseling Center, Tabriz, Azerbaijan, IranNarges Nouri - Genetic Counseling Center, Isfahan, IranRichard J.H Smith - Molecular Otolaryngology Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa, USAKimia Kahrizi - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, IranHossein Najmabadi - Genetics Research Centre (GRC), University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
- Resource Type
- Journal article
- Publication Details
- International journal of pediatric otorhinolaryngology, Vol.76(8), pp.1164-1174
- DOI
- 10.1016/j.ijporl.2012.04.026
- PMID
- 22695344
- NLM abbreviation
- Int J Pediatr Otorhinolaryngol
- ISSN
- 0165-5876
- eISSN
- 1872-8464
- Publisher
- Elsevier Ireland Ltd
- Language
- English
- Date published
- 08/2012
- 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
- 9984006406302771
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