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Mutation Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Central Iran Publisher Pubmed



Haghighatnia A1 ; Keivani A1 ; Nadeali Z1 ; Fazelnajafabadi E1 ; Hosseinzadeh M1, 2 ; Salehi M1, 3
Authors
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Authors Affiliations
  1. 1. Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Medical Genetics, School of Medicine, Tehran University of Medical Science, Tehran, Iran
  3. 3. Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran

Source: International Journal of Pediatric Otorhinolaryngology Published:2015


Abstract

Objective: To identify the spectrum of mutations in connexin 26 gene and frequency of two deletions in connexin 30 gene in central Iran. Methods: After extraction of DNA from 300 blood samples, connexin 26 gene coding region was amplified using specific primers. PCR products were used for bidirectional sequencing. Multiplex PCR was used for detection of del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene. Results: Eighteen different mutations including two novel variants in GJB2 gene were detected. The GJB2 mutations were observed in 23.3% of all the subjects. In addition, none of the deaf patients carried the del(GJB6-D13S1830) and del(GJB6-D13S1854) in the GJB6 gene. The 35delG mutation was the most common mutation, accounting for 32.65% of the mutant alleles. Conclusion: The present study indicates that mutations in the GJB2 gene particularly 35delG are important causes for ARNSHL. 60% of the patients were heterozygous carriers. Thus, further investigation is needed to detect the genetic cause of hearing loss in patients with mono allelic mutations in the coding region of GJB2. © 2015 Elsevier Ireland Ltd.
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