中耳畸形相关综合征的分子病因学研究进展  

Research Progress on Molecular Etiology of Syndromes with Middle Ear Deformity

作　　者：吴谢东 王国建 黄莎莎[1,2,3,4,5,6] 塞娜[1,2,3,4,5,6] 韩东一 WU Xiedong;WANG Guojian;HUANG Shasha;SAI Na;HAN Dongyi(Department of Otolaryngology Head and Neck Surgery,Sixth Medical Center,Beijing 100048;General Hospital of the People's Liberation Army of China,Beijing 100853;Otolaryngology Head and Neck Surgery Department,First Medical Center,Beijing 100853;People's Liberation Army Ear,Nose,and Throat Research Institute,Beijing 100853;Key Laboratory of Deafness,Ministry of Education,Beijing 100853;Beijing Key Laboratory of Deafness Prevention and Control,Beijing 100853)

机构地区：[1]中国人民解放军总医院第六医学中心耳鼻咽喉头颈外科医学部,北京100048 [2]中国人民解放军总医院第一医学中心耳鼻咽喉头颈外科,北京100853 [3]解放军耳鼻咽喉研究所,北京100853 [4]聋病教育部重点实验室,北京100853 [5]聋病防治北京市重点实验室,北京100853 [6]解放军总医院研究生院,北京100853

出　　处：《中华耳科学杂志》2023年第5期728-733,共6页Chinese Journal of Otology

基　　金：国家自然科学基金面上项目(8217041108);解放军总医院第六医学中心创新培育基金(CXPY202113)。

摘　　要：传导性耳聋(Conductive Hearing Loss,CHL)的病因以中耳炎、鼓室占位、外伤、中耳畸形及耳硬化症为主。其中,中耳畸形的发病机制包含胚胎发育异常,并具有一定的遗传相关性。中耳畸形可合并其他系统发育异常或功能障碍,以综合征为表现形式,其临床表型复杂。近年来,相关综合征的分子病因学更多地被发现及探讨。本文探讨中耳胚胎发育过程,归纳相关综合征的临床特征,并就其致病基因及作用机制的研究进展进行综述。Common causes of conductive deafness include otitis media,tympanic space occupying lesions,trauma,middle ear deformity and otosclerosis.Middle ear deformity and otosclerosis can be correlated with genetic factors.Abnormal embryonic development of middle ear is considered to be one of the mechanisms.Middle ear malformation is often accompanied by other abnormalities or dysfunction in syndromes of different phenotypes.In recent years,molecular etiologies of such syndromes have been reported and discussed.In this review,we will discuss the embryonic development of middle ear and clinical characteristics of related syndromes,focusing on the research progress on their genetic etiologies and mechanisms.

关 键 词：中耳畸形 传导性聋 分子病因学 

分 类 号：R764[医药卫生—耳鼻咽喉科]