In our study population, 51 patients had two confirmed pathogenic mutations, plus the patient carrying the dominant R75W, and deafness in 18.31% (52/284) of our patients was due to mutations in GJB2. The percentage of GJB2-related hearing loss in other studies was 5.9-7% in Taiwan, 4.8% in Korea, 10.3% in the US, 13.5% in Australia, and 14.3% in Germany [6,8,9,45,48,53]. Here, GJB2 is linked to deafness.