REVIEW   

Otorinolaringologia 2017 September;67(3):89-95

DOI: 10.23736/S0392-6621.17.02115-4

Copyright © 2017 EDIZIONI MINERVA MEDICA

lingua: Inglese

Studying gap junction beta 2-related deafness in Iranian population

Ameneh MEHRI-GHAHFARROKHI ¹, Morteza HASHEMZADEH-CHALESHTORI ¹, Ali SHOJAEIAN ¹, Mohammad R. MAHMOUDIAN-SANI ^{2, 3} ✉

¹ Iran Cellular and Molecular Research Center, Shahrekord University of Medical Sciences, Shahrekord, Iran; ² Molecular Medicine Research Center, Hamadan University of Medical Sciences, Hamadan, Iran; ³ Department of Genetics and Molecular Medicine, Hamadan University of Medical Sciences, Hamadan, Iran

Hearing loss is the most common sensory disorder in humans, from every 1000 births, 1 is affected by severe to profound deafness. Many genes are involved in deafness that GJB2 gene is one of the most important ones and encodes the connexin 26 proteins. A mutation called delG35 composes most of mutated alleles of connexin 26 and is also the most common cause of congenital sporadic and hereditary deafness. Open Access Journals (DOAJ), Google Scholar, PubMed (NLM), LISTA (EBSCO), and Web of Science have been searched for literature. GJB2 gene mutations play the most significant role in non-syndromic deafness in Iran. 35delG mutation has a high frequency in most parts of Iran, especially in the North and North-West and is also the most common mutation in GJB2 deaf population of Iran. GJB2 gene mutations in Iran play less important roles compared with other countries in causing deafness; however, so far, it has been introduced as the gene that plays the most significant role in causing deafness gene in Iran. It seems that many other genes and loci play roles in causing deafness in Iran that requires more studies to be conducted.

KEY WORDS: Deafness - Sensorineural hearing loss - Connexin 26 - Human DFNA3 protein