伴发单侧突发性聋的遗传性聋1例:GJB2 235delC纯合突变相关的迟发型中度听力损失  

A hereditary hearing loss case accompanied by unilateral sudden hearing loss:GJB2 235delC homozygotes related late-onset moderate hearing impairment

作　　者：王洪阳[1] 熊文萍[1] 关静[1] 王秋菊[1] 

机构地区：[1]中国人民解放军总医院耳鼻咽喉科研究所耳内科,北京100853

出　　处：《临床耳鼻咽喉头颈外科杂志》2016年第14期1136-1138,共3页Journal of Clinical Otorhinolaryngology Head And Neck Surgery

基　　金：国家重大科学研究计划项目(No:2014CB943001);国家自然基金重点国际合作项目(No:81120108009);国家自然科学基金重点项目(No:81530032)

摘　　要：1病例报告患者,男,38岁,2015年10月13日以＂左耳突发听力下降伴耳鸣1个月余＂之主诉就诊于我院门诊。患者于2015年9月10日无明显诱因自觉左耳听力较前下降,伴左耳持续性高调耳鸣,无眩晕、耳痒、耳痛、耳流脓等不适,未予诊治。2015年9月14日就诊于北京某医院,纯音测听示左耳纯音听阈（pure tone average,PTA）72.5dB HL,右耳PTA为57.5dB HL。2015年9月18日于同仁医院复查示左耳PTA为66.25dB HL,右耳PTA为53.75dB HL。A sporadic,case suffering from sudden hearing loss of left ear accompanied by tinnitus when he visited our hospital in 2015,whose hearing threshold had a fluctuation in recent two year.Mutation screening of GJB2 gene,was carried out on the case and his parents by polymerase chain reaction amplification and Sanger sequencing.Targeted 307 genes capture and next-generation sequencing（NGS）was performed to explore,additional possible genetic codes.GJB2 235 delC homozygotes were identified,and NGS showed no other pathogenic,likely pathogenic variations or modifier genes.The overexpression of Connexin30 or the presence of modifier genes may be the possible mechanisms of the late-onset moderate hearing impairment phenotype,and much more cases collection and further in vivo/vitro experiments need to be done to decipher the genetic code.

关 键 词：突发性聋 GJB2 235delC 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]