Audiological Features/Genotype Correlations in GJB2 Mutation
DAI Zhiyao
SUN Baochun
HUANG Shasha
KANG Dongyang
ZHANG Xin
DONG Min
YUAN Yongyi
DAI Pu
Abstract：Objective The aim of the present study was to characterize audiological profiles in patients with GJB2 mu-tation. Methods 1481 NSHI patients with integrated hearing test results were enrolled between April 2007 and March 2011. All patients were received GJB2 genetic test. Results GJB2 mutation positive rate of 1481 subjects was 20.05%. The posi-tive rate of GJB2 mutations in bilateral hearing loss group (20.66%) was statistically significantly higher than unilateral group (2.08%) ( P<0.01 ). In bilateral hearing loss group , the positive rate of GJB2 mutations was highest in the profound group (26.07%) , and then severe(18.12%) , moderate(17.4%) and mild group (11.54%) (P<0.01). The main audiogram shapes found in 297 GJB2 mutations were residual (26.27%) and flat (25.16%) audiograms. We also found low frequency ascending audio-gram shapes (14.93%) in GJB2 deafness. There were differences in the five audiogram shapes of the GJB2 mutations (p<0.01). Conclusions Our study shows that the probability of finding GJB2 mutations increases with the profound, bilateral hearing loss. And also increased in residual and flat audiograms. The cases of unilateral or mild bilateral hearing loss or with low fre-quency ascending audiogram shapes should be routinely tested for GJB2 mutations.
Keywords：nonsyndromic hearing impairmentGJB2genetic testing
Publication Date：2014-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：3( 34-36 )