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

Author

Aparna Ganapathy, Nishtha Pandey, C R Srikumari Srisailapathy, Rajeev Jalvi, Vikas Malhotra, Mohan Venkatappa, Arunima Chatterjee, Meenakshi Sharma, Rekha Santhanam, Shelly Chadha, Arabandi Ramesh, Arun K Agarwal, Raghunath R Rangasayee, and Anuranjan Anand

Subjects
Medicine, Science
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.

Published
2014
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2. Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE

Author

Nishtha Pandey, Anuranjan Anand, Aparna Ganapathy, Meenakshi Sharma, Rekha Santhanam, Mohan Venkatappa, Shelly Chadha, C. R. Srikumari Srisailapathy, R. Rangasayee, Arun Kumar Agarwal, Arunima Chatterjee, Rajeev Jalvi, Arabandi Ramesh, and Vikas Malhotra

Subjects
Male, Genetic Screens, Heredity, lcsh:Medicine, Cell Cycle Proteins, Otology, Molecular Biophysics Unit, medicine.disease_cause, Loss of heterozygosity, Autosomal Recessive, lcsh:Science, Hearing Disorders, Genetics, Mutation, Multidisciplinary, Homozygote, Serine Endopeptidases, Exons, Orvostudományok, Cadherins, Neoplasm Proteins, Autosomal Dominant, Medicine, Female, Allelic heterogeneity, medicine.symptom, Research Article, Heterozygote, Hearing loss, Genetic counseling, Genotypes, Nonsense mutation, Cadherin Related Proteins, India, Biology, Klinikai orvostudományok, Genetic Mutation, medicine, otorhinolaryngologic diseases, Animals, Humans, Allele, Hearing Loss, Alleles, Adaptor Proteins, Signal Transducing, Base Sequence, Point mutation, lcsh:R, Mutation Types, Membrane Proteins, Human Genetics, Introns, Cytoskeletal Proteins, Otorhinolaryngology, Genetics of Disease, lcsh:Q
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.

Published
2014

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