DefinePK

Abstract

Background:  Mutations in gene coding for hepatocyte growth factor protein, HGF are responsible for hereditary deafness worldwide. Evaluation of recurrent variations displays prevalent heredity diversity of a specific population. Mutational screening of  HGF  was aimed to ascertain the causative recurrent variations in Kashmiri families. Methods:  Kashmiri families were enrolled from different divisions of Azad Jammu and Kashmir. By employing linkage analysis all the families were screened for loci common in Pakistani population. Families linked with DFNB39 locus were subjected to direct sequencing for mutational analysis of variants prevalent in Pakistani population. Results:  Sanger sequencing identified a noncoding c.482+1986_1988delTGA variant of  HGF  as recurrent mutation in Kashmiri population. These findings implicate this  HGF  variant as major contributing variant of hearing impairment in Kashmiri families with a frequency of 8.8%. Conclusion:  This is the first study conducted to elucidate the founder effect and prevalence of  HGF  variants in Kashmiri population. This study increases the prevalence of  HGF  variants associated with hearing impairment in the Kashmiri families. Keywords:  HGF ; Autosomal recessive hearing loss; Recurrent mutations; Founder effect