摘要
Waardenburg综合征(Waardenburg syndrome,WS)又被称为听觉-色素综合征,以色素分布异常和耳聋为主要特征,在先天性耳聋病例中占比约2%-5%。随着国内外WS研究数据的不断积累,目前一系列相关致病基因已被陆续报道。内皮素受体B型基因(endothelin receptor type B,EDNRB),对神经嵴发育起到关键调控作用,该基因突变与II型和VI型WS的发生密切相关。本文通过归纳总结国内外多篇关于EDNRB基因突变诱发WS的相关报道,对EDNRB基因在WS发病中的作用予以全面综述,为后续基础研究及临床诊治提供必要理论指导。
Waardenburg syndrome(WS), also known as auditory pigmentation syndrome, is characterized by abnormal pigment distribution and deafness, which accounts for 2-5% of congenital deafness cases. At present, research on WS is advancing both in China and abroad. WS is found to be closely related to gene mutations. The EDNRB(endothelin receptor type B) gene plays a regulatory role in the development of the neural crest. Its mutation is linked to the occurrence of WS types II and VI. In this paper we review the role of the EDNRB gene in WS based on a wealth of domestic and foreign literatures on WS and the EDNRB gene to improve the understanding of WS and provide some useful guidance for its clinical diagnosis and future research.
作者
吴俪媛
陈梦冰
李梦华
邱士伟
乔月华
张岩
时晰
WU Liyuan;CHEN Mengbing;LI Menghua;QIU Shiwei;QIAO Yuehua;ZHANG Yan;SHI Xi(Institute of Audiology and Balance Science,Xuzhou Medical University,Xuzhou 221004,China;Artificial Auditory Laboratory of Jiangsu Province,Xuzhou Medical University,Xuzhou 221004,China;Clinical Hearing Center,Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China;Department of Otolaryngology,First Affiliated Hospital of Fujian Medical University,Fuzhou 350005,China;Department of Otolaryngology,Second Clinical Medical College Shenzhen People’s Hospital,Jinan University,Shenzhen 518020,China;Department of Otorhinolaryngology Head and Neck Surgery,First Hospital of Jilin University,Changchun,Jilin 130021,China)
出处
《中华耳科学杂志》
CSCD
北大核心
2022年第2期344-348,共5页
Chinese Journal of Otology
基金
江苏省大学生创业创新计划基础医学国家级实验教学示范中心(徐州医科大学)资助项目(201910313087Y)
国家自然科学基金(81800916)
徐州市自然科学基金(KC17087)
江苏省高校自然科学研究重大项目(19KJA560002)
吉林省科技厅省部级项目(20200404183YY)。
