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PLoS One. 2014 Jan 8;9(1):e84773. doi: 10.1371/journal.pone.0084773. eCollection 2014.

Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.

Author information

  • 1Molecular Biology and Genetics Unit, Jawaharlal Nehru Centre for Advanced Scientific Research, Bangalore, India.
  • 2Department of Genetics, Dr. ALM Post Graduate Institute of Basic Medical Sciences, Chennai, India.
  • 3Department of Audiology, Ali Yavar Jung National Institute for the Hearing Handicapped, Mumbai, India.
  • 4Department of ENT, Maulana Azad Medical College, New Delhi, India.

Abstract

Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromic hearing loss (ARNSHL) in India, we examined 374 families with the disorder to identify potential mutations. We found four mutations in TMPRSS3, eight in TMC1, ten in USHIC, eight in CDH23 and three in TMIE. Of the 33 potentially pathogenic variants identified in these genes, 23 were new and the remaining have been previously reported. Collectively, mutations in these five genes contribute to about one-tenth of ARNSHL among the families examined. New mutations detected in this study extend the allelic heterogeneity of the genes and provide several additional variants for structure-function correlation studies. These findings have implications for early DNA-based detection of deafness and genetic counseling of affected families in the Indian subcontinent.

PMID:
24416283
[PubMed - indexed for MEDLINE]
PMCID:
PMC3885616
Free PMC Article
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