Novel heterozygous USH1C mutation impacts hair cell mechanotransduction and causes progressive hearing loss

作     者：Yanyan Jia Gaogan Jia Luo Guo Nan Song Yu-Meng Wang Luoying Jiang Yilai Shu Yan Chen Shujia Zhu Huawei Li Wenyan Li Yanyan Jia;Gaogan Jia;Luo Guo;Nan Song;Yu-Meng Wang;Luoying Jiang;Yilai Shu;Yan Chen;Shujia Zhu;Huawei Li;Wenyan Li

作者机构：ENT Institute and Otorhinolaryngology Department of Eye&ENT HospitalState Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain ScienceFudan UniversityShanghai 200031China Institutes of Biomedical SciencesFudan UniversityShanghai 200032China NHC Key Laboratory of Hearing Medicine(Fudan University)Shanghai 200031China The Institutes of Brain Science and the Collaborative Innovation Center for Brain ScienceFudan UniversityShanghai 200032China Shanghai Center for Brain Science and Brain-Inspired Intelligence TechnologyShanghai 201210China Institute of NeuroscienceState Key Laboratory of NeuroscienceCAS Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghai 200031China Department of Cardiologyand Institute for Developmental and Regenerative Cardiovascular MedicineXinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineShanghai 200092China 

出 版 物：《Science Bulletin》 (科学通报（英文版）)

年 卷 期：2024年第69卷第2期

页      面：167-172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：supported by the STI2030-Major Projects(2022ZD0205400) the National Natural Science Foundation of China(82192861,81922018,82271170,and 82101218) the Foundation from Science and Technology Commission of Shanghai Municipality(22140900800 and 20JC1419500) the Foundation from Shanghai Municipal Health Commission(20234Z0007) the China Postdoctoral Science Foundation(2021M700824 and 2022T150133) the Shanghai Super Postdoctoral Incentive Program 

主　　题：mec hearing approximate 

摘      要：Hearing loss is one of the most common sensory disorders worldwide,affecting approximately 466 million people,including 34 million children[1].Genetic mutations accounts for approximately 60%of inherited hearing loss cases[2,3].These genetic changes result in a wide variety of clinical manifestations,ranging from nonsyndromic hearing loss(NSHL)to over 400 syndromes involving hearing loss and from mild adult-onset hearing loss to profound congenital deafness,covering the entire spectrum of Mendelian inheritance.