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GJB2 mutations: passage through Iran.

Hossein Najmabadi1, Carla Nishimura, Kimia Kahrizi

  • 1Genetics Research Center, The Social Welfare and Rehabilitation Sciences University, Koodakyar Street, Daneshjoo Boulevard, Evin, Tehran, Iran. hnajm@mavara.com

American Journal of Medical Genetics. Part A
|January 25, 2005
PubMed
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Mutations in the GJB2 gene are a common cause of hereditary hearing loss. This study found GJB2 mutations in 16.7% of Iranian families with autosomal recessive non-syndromic deafness, but not the Delta(GJB6-D13S1830) deletion.

Area of Science:

  • Genetics
  • Otolaryngology
  • Molecular Biology

Background:

  • Hereditary hearing loss (HHL) is a prevalent disorder, often inherited in an autosomal recessive manner.
  • Mutations in the GJB2 gene are the most frequent cause of congenital severe-to-profound deafness globally, despite genetic heterogeneity.
  • Autosomal recessive non-syndromic deafness (ARNSD) represents a significant portion of HHL cases.

Purpose of the Study:

  • To evaluate the contribution of GJB2 mutations and the Delta(GJB6-D13S1830) deletion to the genetic burden of ARNSD in Iran.
  • To investigate the carrier frequency and geographic variation of the GJB2 35delG mutation in the Iranian population.
  • To compare the prevalence of GJB2-related deafness in Iran with European populations.

Main Methods:

  • Genetic analysis of probands from 664 Iranian nuclear families.

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  • Screening for GJB2 mutations, specifically the 35delG variant.
  • Testing for the presence of the Delta(GJB6-D13S1830) deletion on chromosome 13.

    • Main Results:

    • GJB2 mutations were identified in 111 families, accounting for 16.7% of ARNSD cases.
    • The carrier frequency of the GJB2 35delG mutation exhibited geographic variation within Iran.
    • The Delta(GJB6-D13S1830) deletion was not detected in any of the studied families.
    • The prevalence pattern of GJB2-related deafness in Iran suggests a potential founder effect linked to southeastern Europe.

    Conclusions:

    • GJB2 mutations are a major contributor to ARNSD in Iran.
    • The geographic distribution of GJB2 mutations supports a link with European populations.
    • Further research is needed to elucidate the complete genetic architecture of deafness in Iran.