中华耳科学杂志2018，Vol.16Issue(2)：165-170,6.DOI:10.3969/j.issn.1672-2922.2018.02.008
GJB2 235delC纯合突变致聋患者的听力表型分析
Audiological Features in Patients with GJB2 c.235delC Homozygous Mutations
摘要
Abstract
Objective The present study aims to characterize the audiological profile in patients with GJB2 c.235delC homozygous mutations,and specifically,the symmetry of bilateral hearing in each individual.Methods A to-tal of 100 cases of GJB2 c.235delC homozygous mutations with NSHL diagnosed at the Chinese PLA General Hospital between 2007 and 2014 were analyzed in this study.Genetic tests,pure tone audiometry,and multiple-frequency audito-ry steady-state evoked responses(ASSR)tests were performed. Results Most of the cases presented with substantial hearing impairments.Hearing loss was profound in 51 cases,severe in 20 cases,and moderate to severe in 21 cases.De-scending (37%) and flat (21%) audiogram types were common. Sixty-one out of the 100 cases showed asymmetrical hearing loss,of which 36 demonstrated audiogram curve asymmetry(Type A asymmetry)including unilateral residual hearing or total hearing loss in 11 cases(Type Aa),18 showed paralleled interaural differences(Type B asymmetry), and the remaining 7 showed irregular interaural differences(Type C asymmetry).In patients with asymmetric hearing, hearing loss was profound in 21 cases(34.4%),severe in 17 cases(27.9%),and moderate-to-severe in 17 cases(27.9%), with the descending (36.1%) and flat (23.0%) patterns being most common. In contrast, among the patients showing symmetric hearing, most (30 cases, 76.9%) presented with severe hearing loss with descending (38.5%) or residual (30.8%)types of audiogram.Conclusions Patients with GJB2 c.235delC homozygous mutations-related hearing impair-ment demonstrate diverse phenotypes of hearing loss,with a substantial number of cases showing asymmetric hearing.关键词
GJB2235delC/听力表型/不对称听力Key words
GJB2 c.235delC/Audiological Phenotype/Asymmetry Hearing分类
医药卫生引用本文复制引用
郭畅,蒋刈,黄莎莎,康东洋,张昕,杨苏燕,江远仕,戴朴..GJB2 235delC纯合突变致聋患者的听力表型分析[J].中华耳科学杂志,2018,16(2):165-170,6.基金项目
国家重点研发计划项目(2016YFC1000700) （2016YFC1000700）
国家自然科学基金重点项目(81730029) This work was supported by National Key Research and Development Program of China(2016YFC1000700),State Key Program of National Natural Science Foundation of China(81730029). （81730029）
