Genetic analysis of SLC26A4 gene (pendrin) related deafness among a cohort of assortative mating families from southern India.

Jayasankaran Chandru Justin Margret Jeffrey Amritkumar Pavithra S Paridhy VanniyaG Nandhini DeviSubathra MahalingamNatarajan Padmavathy KarthikeyenC R Srikumari Srisailapathy

Published in: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery (2020)

We recommend a preliminary screening of mutational hotspots for future investigations to rapidly test for its recurrence among South Indian HI population. This will be the first study to comprehensively account for the incidence of SLC26A4 gene variants and the real-time dynamics of DFNB4 variants among this type of a HI cohort.

Keyphrases

copy number
genome wide
genome wide identification
risk factors
dna methylation
current status
transcription factor
drug induced