MET variant and human hearing loss

Hearing loss is a common phenotype. We mapped DFNB97, a new recessively inherited deafness locus, to chromosome 7q31.2. The DFNB97 phenotype is segregating in a consanguineous family with 9 affected individuals. Whole-exome sequencing (WES) identified a missense mutation in MET (Mesenchymal Epithelial Transition factor) which is the receptor for HGF (hepatocyte growth factor). The p.F841V variant co-segregated with deafness in this family, and affects a highly conserved amino acid in MET in a domain that forms an HGF binding site. It is predicted to be disease causing by different software programs. Although the requirement of HGF for normal hearing has been reported, this is the first study to directly implicate its receptor MET in human hearing. (By Dr. Sadaf Naz, )

Mujtaba et al. JMG blog

(Visited 137 times, 1 visits today)