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Title: Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
Authors: Ganapathy, Aparna
Pandey, Nishtha
Srisailapathy, C. R. Srikumari
Jalvi, Rajeev
Malhotra, Vikas
Venkatappa, Mohan
Chatterjee, Arunima
Sharma, Meenakshi
Santhanam, Rekha
Chadha, Shelly
Ramesh, Arabandi
Agarwal, Arun K.
Rangasayee, Raghunath R.
Anand, Anuranjan
Keywords: Autosomal Recessive Deafness
Nonsyndromic Deafness
Missense Mutations
Issue Date: 2014
Publisher: Public Library of Science
Citation: Ganapathy, A; Pandey, N; Srisailapathy, CRS; Jalvi, R; Malhotra, V; Venkatappa, M; Chatterjee, A; Sharma, M; Santhanam, R; Chadha, S; Ramesh, A; Agarwal, AK; Rangasayee, RR; Anand, A, Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE. PLoS One 2014, 9 (1), e84773
PLoS One
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.
Description: Open Access
ISSN: 1932-6203
Appears in Collections:Research Papers (Anuranjan Anand)

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