Inbreeding as a cause for deafness: Dadhkai study

Abstract

BACKGROUND:We report on the higher prevalence of deaf-mutes from a village in Jammu and Kashmir State of India.MATERIALS AND METHODS:A cross-sectional study among 79 deaf mutes using pedigree analysis, audiometry, imaging and molecular analysis.RESULTS:A high rate of hereditary deafness with 79 individuals diagnosed to be suffering from non-syndrome deafness in a total population of 2452 individuals residing in the village.INTERPRETATION:Flourishing of intermarriages led to a population with high prevalence of deafness

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

“…Considering the heterogeneity of the J&K population, it would have been highly informative if these studies could have screened the whole CFTR gene. Nevertheless, it is pertinent to mention that until these molecular studies had been conducted, Cystic Fibrosis was earlier considered to be uncommon in J&K. A team of researchers from Jammu had conducted a pilot study on screening of coding region exon 2 of GJB2 gene (OMIM# 121011) in randomly selected 17 affected individuals from the previously mentioned Dadhkai village (Village of Silence) in Doda -J&K (Razdan et al, 2012). Through this study, GJB2 variations in only 4 out 17 subjects were detected which included p.G12V, p.L6L, p.R165W, p.L214P, and Del T at nt 636 variations.…”