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 

机构地区：[1]BGI College and Henan Institute of Medical and Pharmaceutical Sciences,Zhengzhou University,Zhengzhou,Henan 450052,China [2]Precision Medicine Center,Academy of Medical Science,Zhengzhou University,Zhengzhou,Henan 450052,China [3]The Second Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450014,China [4]Department of Otorhinolaryngology,Head and Neck Surgery,The First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052,China [5]The Third People’s Hospital of Zhengzhou,Zhengzhou,Henan 450000,China [6]Department of Physiology and Neurobiology,Academy of Medical Science,Zhengzhou University,Zhengzhou,Henan 450001,China

出　　处：《Chinese Medical Journal》2022年第21期2631-2633,共3页中华医学杂志（英文版）

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

摘　　要：To the Editor:Hearing loss is the most common sensory disorder in humans.There is one case of congenital deafness among every 1000 newborns,and in 50%of cases,the deafness is hereditary.Deafness exhibits high genetic heterogeneity.To date,over 110 non-syndromic deafness genes have been identified(https://hereditaryhearingloss.org/).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 them.TMC1(OMIM:606706)is a member of the TMC family located at 9q21.13.The protein contains 760 amino acids and has six transmembrane regions.TMC1 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 families.To date,around 20 hearing loss families associated withTMC1 variants have been reported in China.

关 键 词：DEAFNESS CONGENITAL HEARING 

分 类 号：R764.43[医药卫生—耳鼻咽喉科]