A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.

@article{Onsori2014ANC,
  title={A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.},
  author={Habib Onsori and Mohammad Hosien Rahmati and Davood Fazli},
  journal={Acta medica Iranica},
  year={2014},
  volume={52 8},
  pages={
          638-40
        }
}
Mutations in the Connexin 26 (Cx26) gene are a common cause of hereditary hearing loss in different populations. In the present study, an Iranian patient with bilateral hearing loss underwent molecular analysis for the causative mutation. DNA studies were performed for the Cx26 gene by PCR and sequencing methods. We describe a novel compound heterozygous mutation (35delG, 363delC) in the Cx26 gene that is strongly associated with congenital non-syndromic hearing loss (NSHL). 

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References

Publications referenced by this paper.
SHOWING 1-10 OF 16 REFERENCES

A novel compound heterozygous mutation and connexin 26 gene

M Hashemzadeh Chaleshtori, M Montazer Zohour
  • Acta Medica Iranica,
  • 2006
VIEW 1 EXCERPT

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

Hsiao-Lin Hwa, Tsang-Ming Ko, +5 authors Chia-Kai Hsu
  • 2003
VIEW 2 EXCERPTS