GJB2-related hearing loss in central Iran: Review of the spectrum and frequency of gene mutations

Ann Hum Genet. 2020 Mar;84(2):107-113. doi: 10.1111/ahg.12354. Epub 2019 Sep 11.


Mutations in the GJB2 gene are a main cause of autosomal-recessive nonsyndromic hearing loss (ARNSHL) in many populations. Previous studies have estimated the average frequency of GJB2 mutations to be ∼16% in Iran, but would vary among different ethnic groups. Here, we have taken together and reviewed results from our two previous publications and data from searching other published mutation reports to provide a comprehensive collection of data for GJB2 mutations and HL in central Iran. In all, 332 unrelated families were included and analyzed for the prevalence and type of the GJB2 gene mutations. In total, the frequency of GJB2 mutations was found to be 16% in the central provinces, which is significantly higher than those identified in southern populations of Iran. Also, c.35delG was the most frequent mutation in the related population. The present study suggests that mutations in the GJB2 gene, especially c.35delG, are important causes of HL in central Iran and can be used as a basis of genetic counseling and clinical guidelines in this region.

Keywords: GJB2; Iranian population; clinical guidelines; nonsyndromic hearing loss.

Publication types

  • Review

MeSH terms

  • Connexin 26
  • Connexins / genetics*
  • Hearing Loss / genetics*
  • Hearing Loss / pathology*
  • Humans
  • Mutation Rate
  • Mutation*


  • Connexins
  • GJB2 protein, human
  • Connexin 26