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. 2014 Jan 8;9(1):e84773.
doi: 10.1371/journal.pone.0084773. eCollection 2014.

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

Aparna Ganapathy  1 , Nishtha Pandey  1 , C R Srikumari Srisailapathy  2 , Rajeev Jalvi  3 , Vikas Malhotra  4 , Mohan Venkatappa  1 , Arunima Chatterjee  1 , Meenakshi Sharma  1 , Rekha Santhanam  1 , Shelly Chadha  4 , Arabandi Ramesh  2 , Arun K Agarwal  4 , Raghunath R Rangasayee  3 , Anuranjan Anand  1
Affiliations

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

Aparna Ganapathy et al. 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.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Analysis of segregation and conservation of novel variants in TMPRSS3 and TMC1.
A) TMPRSS3 and B) TMC1. Top panel shows the family structure and segregation of the variants; in cases where the variants were seen in more than one family, a single representation is provided; middle panel shows the electropherogram and lower panel shows the conservation of the mutated residue.
Figure 2
Figure 2. Analysis of segregation and conservation of novel variants in USH1C and CDH23.
A) USHIC and B) CDH23. Top panel shows the family structure and segregation of the variants; in cases where the variants were seen in more than one family, a single representation is provided; middle panel shows the electropherogram and lower panel shows the conservation of the mutated residue.
Figure 3
Figure 3. Schematic representation of TMPRSS3, TMC1, USH1C, CDH23 and TMIE.
A) TMPRSS3, B) TMC1, C) USH1C, D) CDH23 and E) TMIE. Arrows point to the location of the mutations. Shown in red are the mutations identified in the study.
See this image and copyright information in PMC

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