https://libjncir.jncasr.ac.in/xmlui/handle/10572/1499 2026-04-04T05:31:07Z 2026-04-04T05:31:07Z 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 https://libjncir.jncasr.ac.in/xmlui/handle/10572/2471 2017-02-21T10:24:15Z 2014-01-01T00:00:00Z

Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE 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 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. Open Access

2014-01-01T00:00:00Z Pandey, Nishtha Xavier, Dennis F. Chatterjee, Arunima Mani, Ram-Shankar Hiremagalore, Ravi Tharakan, Ajith Rajashekhar, B. Anand, Anuranjan https://libjncir.jncasr.ac.in/xmlui/handle/10572/2175 2017-02-21T10:22:59Z 2016-01-01T00:00:00Z

Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma Pandey, Nishtha; Xavier, Dennis F.; Chatterjee, Arunima; Mani, Ram-Shankar; Hiremagalore, Ravi; Tharakan, Ajith; Rajashekhar, B.; Anand, Anuranjan Mutations in the gap-junction gene Cx30 (Connexin30, GJB6) are a known cause of hearing loss. Here, we report our findings on a large multigeneration family in which severe to profound sensorineural hearing impairment is associated with a variety of skin-related anomalies. Genome-wide analysis of the family showed that the locus maps to chromosome region 13ptel-q12.1 and that a novel mutation, p.N54K, in Cx30, cosegregates with the phenotype. Unlike wild-type Cx30, p.N54K Cx30 is predominantly localized in the cytoplasm and does not permit transfer of neurobiotin, suggesting improper cellular localization and abolishment of gap-junction activity. Restricted Access

2016-01-01T00:00:00Z