Article
Recurrence of reported CDH23 mutations causing DFNB12 in a special cohort of South Indian hearing impaired assortative mating families - an evaluation.
Annals of human genetics - 1 Mar 2018
Vanniya S Paridhy, Chandru Jayasankaran, Pavithra Amritkumar, Jeffrey Justin Margret, Kalaimathi Murugesan, Ramakrishnan Rajagopalan, Karthikeyen Natarajan P, C R Srikumari Srisailapathy
Abstract excerpt
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 for CDH23 mutations to identify prevalent and recurring mutations among South Indian assortative mating hearing-impaired individuals who were identified as non-DFNB1 (GJB2 and GJB6). Whole-exome sequencing was performed in...
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