Deafness refers to different degrees of hearing loss (HL). The factors leading to HL are complex, among which heredity is a major one. Nonsyndromic hearing loss (NSHL) accounts for 80% of hereditary deafness. More than 140 genes have been regarded to be closely related to NSHL. The mutation of GJB2 (gap junction protein, beta 2) gene accounts for 80% of NSHL and more than 50% of children NSHL, playing the most important role in deafness genes. This paper reviewed the studies on the association between GJB2 gene mutation and HL to provide reference for genetic diagnosis and counseling.
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