A mutation of MET, encoding hepatocyte growth factor receptor, is associated with human DFNB97 hearing loss.

ABSTRACT:

Background

Hearing loss is a heterogeneous neurosensory disorder. Mutations of 56 genes are reported to cause recessively inherited non-syndromic deafness.

Objective

We sought to identify the genetic lesion causing hearing loss segregating in a large consanguineous Pakistani family.

Methods and results

Mutations of GJB2 and all other genes reported to underlie recessive deafness were ruled out as the cause of the phenotype in the affected members of the participating family. Homozygosity mapping with a dense array of one million SNP markers allowed us to map the gene for recessively inherited severe hearing loss to chromosome 7q31.2, defining a new deafness locus designated DFNB97 (maximum logarithm of the odds score of 4.8). Whole-exome sequencing revealed a novel mi

SUBMITTER: Mujtaba G 

PROVIDER: S-EPMC4529444 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature