Journal article
Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss
International journal of pediatric otorhinolaryngology, Vol.76(2), pp.268-271
2012
DOI: 10.1016/j.ijporl.2011.11.019
PMID: 22172221
Abstract
Hereditary hearing impairment is a genetically heterogeneous disorder. In spite of this, mutations in the
GJB2 gene, encoding connexin 26 (Cx26), are a major cause of nonsyndromic recessive hearing loss in many countries and are largely dependent on ethnic groups. The purpose of our study was to characterize the type and prevalence of
GJB2 mutations among Azeri population of Iran.
Fifty families presenting autosomal recessive nonsyndromic hearing loss from Ardabil province of Iran were studied for mutations in
GJB2 gene. All DNA samples were screened for c.35delG mutation by ARMS PCR. Samples from patients who were normal for c.35delG were analyzed for the other variations in
GJB2 by direct sequencing. In the absence of mutation detection,
GJB6 was screened for the del(GJB6-D13S1830) and del(GJB6-D13S1854).
Thirteen families demonstrated alteration in the Cx26 (26%). The 35delG mutation was the most common one, accounting for 69.2% (9 out of 13 families). All the detected families were homozygous for this mutation. Two families were homozygous for delE120 and 299–300delAT mutations. We also identified a novel mutation: c.463–464 delTA in 2 families resulting in a frame shift mutation.
Our results suggest that c.35delG mutation in the
GJB2 gene is the most important cause of
GJB2 related deafness in Iranian Azeri population.
Details
- Title: Subtitle
- Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss
- Creators
- Behzad Davarnia - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranMojgan Babanejad - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranZohreh Fattahi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranNooshin Nikzat - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranNiloofar Bazazzadegan - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranAkbar Pirzade - Medical University of Ardebil, IranReza Farajollahi - Ardebil Welfare Organization, Ardebil, IranCarla Nishimura - Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, USAKhadijeh Jalalvand - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranSanaz Arzhangi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranKimia Kahrizi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, IranRichard J.H Smith - Molecular Otolaryngology & Renal Research Laboratories, Department of Otolaryngology Head and Neck Surgery, University of Iowa, Iowa City, USAHossein Najmabadi - Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
- Resource Type
- Journal article
- Publication Details
- International journal of pediatric otorhinolaryngology, Vol.76(2), pp.268-271
- DOI
- 10.1016/j.ijporl.2011.11.019
- PMID
- 22172221
- NLM abbreviation
- Int J Pediatr Otorhinolaryngol
- ISSN
- 0165-5876
- eISSN
- 1872-8464
- Publisher
- Elsevier Ireland Ltd
- Language
- English
- Date published
- 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
- 9984006304702771
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