GJB2 and deafness: In our study, the mutation frequencies of GJB2 are 9.05% Uyghur patients and 16.56% for Han Chinese patients, in consistence with the report of Dai et al. In contrast to SLC26A4, mtDNA 12S rRNA and GJB3, GJB2 exhibits the highest mutation frequency in the two ethnicities, justifying that GJB2 remains the primary deafness-associated gene in both Uyghur and Han Chinese NSD patients.