A Novel p.Tyr129His Variant in SIX1 Leads to Dominant,Delayed-onset Hearing Loss with Possible Association with Congenital Anosmia

作     者：PANG Xiu Hong ZHENG Xiao Yong LIN Yun ZHENG Hao XU Jun LIU Dong JIN Chun Yan ZHANG Lu Ping ZHANG Yu Ting CHU Jiu Sheng CHAI Yong Chuan YANG Tao PANG Xiu Hong;ZHENG Xiao Yong;LIN Yun;ZHENG Hao;XU Jun;LIU Dong;JIN Chun Yan;ZHANG Lu Ping;ZHANG Yu Ting;CHU Jiu Sheng;CHAI Yong Chuan;YANG Tao

作者机构：Department of Otolaryngology-Head and Neck SurgeryTaizhou People's Hospitalthe Fifth Affiliated Hospital of Nantong University&Clinical Hospital of Dalian Medical UniversityTaizhou 225300JiangsuChina Department of DermatologyTaizhou People's Hospitalthe Fifth Affiliated Hospital of Nantong UniversityTaizhou 225300JiangsuChina Department of Otolaryngology-Head and Neck Surgerythe Ninth People's HospitalShanghai Jiaotong University School of MedicineShanghai 200011China Ear InstituteShanghai Jiaotong University School of MedicineShanghai 200011China Shanghai Key Laboratory of Translational Medicine on Ear and Nose DiseasesShanghai 200011China Department of Clinical MedicineMedical School of Nantong UniversityNantong 226000JiangsuChina Life scientific SchoolNeuroregenerative Key Laboratory of Jiangsu and Ministry of EducationNeuroregenerative Co-innovation CenterNantong UniversityNantong 226000JiangsuChina Department of Medical GeneticsTaizhou People's Hospitalthe Fifth Affiliated Hospital of Nantong UniversityTaizhou 225300JiangsuChina Department of Otolaryngology-Head and Neck SurgeryAffiliated Hospital of Nantong UniversityNantong 226000JiangsuChina 

出 版 物：《Biomedical and Environmental Sciences》 (生物医学与环境科学（英文版）)

年 卷 期：2021年第34卷第4期

页      面：314-318页

核心收录：

学科分类：0830[工学-环境科学与工程（可授工学、理学、农学学位）] 1004[医学-公共卫生与预防医学(可授医学、理学学位)] 1002[医学-临床医学] 1001[医学-基础医学(可授医学、理学学位)] 100213[医学-耳鼻咽喉科学] 10[医学] 

基　　金：supported by grants from National Natural Science Foundation of China[81700920,81970894,and81870725] Natural Science Foundation of Jiangsu Province[BK20191229,BK20180048,and 17KJA180008] the Fifth‘333Project’Scientific Research Foundation of Jiangsu Province[BRA2019192 and BRA2019278] Medical Scientific Research Project from Health and Family Planning Commission of Jiangsu Province[H201666] Shanghai Municipal Education Commission–Gaofeng Clinical Medicine Grant Science and Technology Commission of Shanghai Municipality[14DZ2260300]。 

主　　题：SIX1 homeobox belongs 

摘      要：SIX1(OMIM 601205),as a member of the SIX homeobox transcription factor family,belongs to homologs of the Drosophila‘sine oculis’gene that expresses primarily in the developing visual system of the fly.The SIX family includes six members(SIX1–SIX6),which share a homologous DNA-binding homeodomain(HD)and a highly conserved protein–protein interacting SIX domain(SD)[1].