Document Type : Original Article

Authors

• N Bazazzadegan ¹
• N Mirhoseini ²
• H Ziaaddini ³
• AR Asadi ⁴
• K Kahrizi ²
• S Arzhangi ⁵
• A Astani ⁶
• M Mohseni ¹
• Y Riazalhosseini ¹
• M Nejat ⁷
• Kh Jalalvand ⁵
• RJH Smith ⁸
• C Nishimura ⁹
• H Najmabadi ¹⁰

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.

Keywords

• Autosomal recessive non-syndromic hearing loss (ARNSHL)
• GJB2
• 35delG