Ganapathy, Aparna and Pandey, Nishtha and Srisailapathy, Srikumari CR and Jalvi, Rajeev and Malhotra, Vikas and Venkatappa, Mohan and Chatterjee, Arunima and Sharma, Meenakshi and Santhanam, Rekha and Chadha, Shelly and Ramesh, Arabandi and Agarwal, Arun K. and Rangasayee, Raghunath R. and Anand, Anuranjan (2014) Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. In: PLOS ONE, 9 (1).
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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.
| Item Type: | Journal Article |
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| Publication: | PLOS ONE |
| Publisher: | PUBLIC LIBRARY SCIENCE |
| Additional Information: | Copyright for this article belongs to the authors. |
| Department/Centre: | Division of Biological Sciences > Molecular Biophysics Unit |
| Date Deposited: | 21 Feb 2014 06:24 |
| Last Modified: | 21 Feb 2014 06:24 |
| URI: | http://eprints.iisc.ac.in/id/eprint/48420 |
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