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. 2019 Jan;83(1):1-10. doi: 10.1111/ahg.12284. Epub 2018 Sep 3.

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.

Keywords: autosomal recessive nonsyndromic hearing loss (ARNSHL); gap junction beta 2 protein (GJB2); hearing loss; mutation; nonsyndromic hearing loss and deafness (DFNB1).

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • Deafness / genetics*
  • Gene Frequency
  • Genetics, Population
  • Humans
  • Mutation
  • Sequence Deletion

Substances

  • Connexins
  • GJB2 protein, human
  • Connexin 26

Supplementary concepts

  • Nonsyndromic Deafness