Relative Frequency of 35delG Mutation in GJB2 Gene in Autosomal Recessive Non-Syndromic Hearing Loss (ARNSHL) Patients in Kerman Population

Document Type: Original Article

Authors

1 Master of Science in Cell and Molecular Biology

2 Pediatrician

3 General Practicioner

4 PhD in Medical Physics and Rehabilitation

5 Bachelor of Science in Nursing

6 Master of Science in Virology, Genetics Department, Kerman Social Welfare and Rehabilitation Organization, Kerman Iran

7 Master of Science in Genetics

8 Audiologist, Head of Otolaryngology Research Center

9 Head of Gentics Department, Otolaryngology Research Center, University of Iowa City, IA, USA.

10 Associate Professor of Genetics, Genetics Research Center, The University of Social Welfare and Rehabilitation, Tehran, Iran.

Abstract

Congenital hearing loss with many genetic and environmental causes affects 1 in 1000 newborns. Mutations in the GJB2(Gap Junction Beta-2) gene encoding the gap junction protein connexin 26 have been established as the main cause of autosomal recessive non-syndromic hearing loss. The aim of this study was to study the frequency of one mutation (35delG) of GJB2 gene in Kerman non-syndromic deaf population. For this purpose, 130 chromosomes from 65 patients were studied and 35delG mutation was diagnosed in 3(2.3%) chromosomes (one patient was homozygote and the other one was heterozygote). This rate of frequency is significantly higher comparing to that in the whole population of Iran.

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