Article
Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
PloS one - 1 Jan 2014
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
Abstract excerpt
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...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.