Tonal audiometry of GJB2 235delC single heterozygous mutation carriers

VernacularTitle:GJB2235delC单杂合突变携带者的纯音测听评估
Author: Qi LI ¹ ; Ru-Ping FANG ; Guo-Jian WANG ; Fang LIU ; Pu DAI
Author Information

1. 南京医科大学附属南京儿童医院
Keywords: Hearing loss; Audiometry,pure-tone; Connexins; Mutation; Heterozygote
From: Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2011;46(7):543-546
CountryChina
Language:Chinese
Abstract: Objective To analyze GJB2 235delC monoallelic mutation carrier individuals and test the possible presence and incidence of audiometric abnormalities among 30 - 60 years old carriers of the 235delC mutations.Methods A total of 32 unrelated subjects with nonsyndromic hearing loss were screened for the 235delC mutation.Tonal audiometric analysis was performed on the 235delC mutation carrier group and on a non-carrier control group.Results Audiometric evaluations in the control group showed the presence of thresholds within normal limits at all frequencies,while carriers of the 235delC mutation presented with decreasd hearing at 1000 Hz and 2000 Hz (age 40-49 years and 50-59 years) ,and 4000 and 8000 Hz( age 30-59 years) ,P ＜ 0.05.The hearing loss of carriers gradually increased with age.Conclusions GJB2 235delC heterozygous carriers may be a risk group for high-frequency hearing loss.Hearing thresholds may deteriorate in the intermediate frequencies over the age of 40.