Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.

@article{Maheshwari2003ScreeningOF,
  title={Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.},
  author={Manjula Maheshwari and R. Bhuvana Vijaya and Manju Ghosh and Shivaram Shastri and Madhulika Kabra and Puthezhath S N Menon},
  journal={American journal of medical genetics. Part A},
  year={2003},
  volume={120A 2},
  pages={180-4}
}
Several studies have reported that mutations in the GJB2 gene (coding for connexin26) are a common cause of recessive non-syndromic hearing impairment. A GJB2 mutant allele, 35delG, has been found to have a high prevalence in most ethnic groups. Though mutations in the GJB2 gene have been shown to cause autosomal recessive deafness in Indian families, the frequencies of the various mutations are still unknown. In the present study, we analyzed 45 Indian families belonging to three different… CONTINUE READING

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