Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss

Azadegan-Dehkordi, F and Ahmadi, R and Koohiyan, M and Hashemzadeh-Chaleshtori, M (2018) Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss. Ann Hum Genet.

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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
Uncontrolled Keywords: autosomal recessive nonsyndromic hearing loss (ARNSHL); gap junction beta 2 protein (GJB2, hearing loss, mutation, nonsyndromic hearing loss and deafness (DFNB1)
Subjects: W General medicine- Health professions
WL Nervous system
WV Otolaryngology
Divisions: Reserach Vice-Chancellar Department > Cellular and Molecular Research Center
Depositing User: Unnamed user with email zamani.m@skums.ac.ir
Date Deposited: 12 Sep 2018 04:46
Last Modified: 12 Sep 2018 04:46
URI: http://eprints.skums.ac.ir/id/eprint/7131

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