1. Recurrence of reported <italic>CDH23</italic> mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families – an evaluation.
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Vanniya S, Paridhy, Chandru, Jayasankaran, Pavithra, Amritkumar, Jeffrey, Justin Margret, Kalaimathi, Murugesan, Ramakrishnan, Rajagopalan, Karthikeyen, Natarajan P., and C. R. Srikumari, Srisailapathy
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DEAFNESS , *GENETIC mutation , *EXOMES , *MISSENSE mutation , *ETIOLOGY of diseases , *HEARING impaired - Abstract
Abstract: Mutations in
CDH23 are known to cause autosomal‐recessive nonsyndromic hearing loss (DFNB12). Until now, there was only one study describing its frequency in Indian population. We screened forCDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing‐impaired individuals who were identified as non‐DFNB1 (GJB2 andGJB6 ). Whole‐exome sequencing was performed in individuals found to be heterozygous forCDH23 to determine whether there was a second pathogenic allele. In our study, 19 variants including 6 pathogenic missense mutations were identified. The allelic frequency of pathogenic mutations accounts to 4.7% in our cohort, which is higher than that reported previously; three mutations (c.429+4G>A, c.2968G>A, and c.5660C>T) reported in the previous Indian study were found to recur. DFNB12 was found to be the etiology in 3.4% of our cohort, with missense mutation c.2968G>A (p.Asp990Asn) being the most prevalent (2.6%). These results suggest a need to investigate the possibility for higher proportion ofCDH23 mutations in the South Indian hearing‐impaired population. [ABSTRACT FROM AUTHOR]- Published
- 2018
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