A novel splicing variant in the TMC1 gene causes non-syndromic hearing loss in a Chinese family

作     者：Beiping Zeng Hongen Xu Yongan Tian Qianyu Lin Haifeng Feng Zhifeng Zhang Siqi Li Wenxue Tang 

作者机构：BGI College and Henan Institute of Medical and Pharmaceutical SciencesZhengzhou UniversityZhengzhouHenan 450052China Precision Medicine CenterAcademy of Medical ScienceZhengzhou UniversityZhengzhouHenan 450052China The Second Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan 450014China Department of OtorhinolaryngologyHead and Neck SurgeryThe First Affiliated Hospital of Zhengzhou UniversityZhengzhouHenan 450052China The Third People’s Hospital of ZhengzhouZhengzhouHenan 450000China Department of Physiology and NeurobiologyAcademy of Medical ScienceZhengzhou UniversityZhengzhouHenan 450001China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2022年第135卷第21期

页      面：2631-2633页

核心收录：

学科分类：1002[医学-临床医学] 100213[医学-耳鼻咽喉科学] 10[医学] 

基　　金：Collaborative Innovation Project of Zhengzhou (Zhengzhou University)(No. 18XTZX12004) 

主　　题：deafness congenital hearing 

摘      要：To the Editor:Hearing loss is the most common sensory disorder in *** is one case of congenital deafness among every 1000 newborns,and in 50%of cases,the deafness is *** exhibits high genetic *** date,over 110 non-syndromic deafness genes have been identified(https://***/).Lots of those genes can cause both autosomaldominant hearing loss(ADNSHL)and autosomal-recessive non-syndromic hearing loss(ARNSHL)andTMC1(encoding the transmembrane channel-like 1)is one of ***1(OMIM:606706)is a member of the TMC family located at *** protein contains 760 amino acids and has six transmembrane ***1 is expressed in the inner and outer hair cells of the cochlea.A TMC1 mutation was first shown to cause deafness in 2002.[1]The prevalence of TMC1 variants ranged from 3.4%(19/557)among Pakistani ARNSHL families to 8.1%(7/86)in Turkish *** date,around 20 hearing loss families associated withTMC1 variants have been reported in China.