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dc.contributor.authorGanapathy, Aparna
dc.contributor.authorPandey, Nishtha
dc.contributor.authorSrisailapathy, C. R. Srikumari
dc.contributor.authorJalvi, Rajeev
dc.contributor.authorMalhotra, Vikas
dc.contributor.authorVenkatappa, Mohan
dc.contributor.authorChatterjee, Arunima
dc.contributor.authorSharma, Meenakshi
dc.contributor.authorSanthanam, Rekha
dc.contributor.authorChadha, Shelly
dc.contributor.authorRamesh, Arabandi
dc.contributor.authorAgarwal, Arun K.
dc.contributor.authorRangasayee, Raghunath R.
dc.contributor.authorAnand, Anuranjan
dc.identifier.citationGanapathy, 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
dc.identifier.citationPLoS Oneen_US
dc.descriptionOpen Accessen_US
dc.description.abstractMutations 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.en_US
dc.publisherPublic Library of Scienceen_US
dc.rights@Public Library of Science, 2014en_US
dc.subjectAutosomal Recessive Deafnessen_US
dc.subjectNonsyndromic Deafnessen_US
dc.subjectMissense Mutationsen_US
dc.titleNon-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIEen_US
Appears in Collections:Research Papers (Anuranjan Anand)

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