Update of spectrum c.35delG and c.-23+1G>A mutations on theGJB2gene in individuals with autosomal recessive nonsyndromic hearing loss

Azadegan-Dehkordi, Fatemeh and Ahmadi, Reza and Koohiyan, Mahbobeh and Hashemzadeh-Chaleshtori, Morteza (2019) Update of spectrum c.35delG and c.-23+1G>A mutations on theGJB2gene in individuals with autosomal recessive nonsyndromic hearing loss. Annals of Human Genetics, 83 (1). pp. 1-10. ISSN 00034800

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Abstract

Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q11-12) are the main causes of autosomal recessive nonsyndromic hearing loss worldwide, but important differences exist between various populations. In the present article, two common mutations of the GJB2 gene are compared for ethnic-specific allele frequency, their function, and their contribution to genetic HL in different populations. The results indicated that mutations of the GJB2 gene could have arisen during human migration. Updates on the spectrum of mutations clearly show that frequent mutations in the GJB2 gene are consistent with the founder mutation hypothesis.

Item Type: Article
Subjects: QU Biochemistry > Cell biology and genetics
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: zeynab . bagheri
Date Deposited: 17 May 2020 09:11
Last Modified: 17 May 2020 09:17
URI: http://eprints.skums.ac.ir/id/eprint/8371

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