Among the 160 subjects with moderate to profound SNHL without any phenotypic markers, 37 subjects (23.1%, 37/160) harbored at least one mutant allele in GJB2. Twenty-seven subjects were confirmed to be DFNB1 with two definitely pathogenic mutant alleles in GJB2 either as homozygotes or compound heterozygotes. Here, GJB2 is linked to sensorineural hearing loss disorder.