原发性纤毛运动障碍综合征的致病基因与纤毛结构改变  

Pathogenic genes and corresponding ciliary defects associated with primary ciliary dyskinesia

作　　者：王丽娜 徐保平[1] 高立伟[1] Wang Lina;Xu Baoping;Gao Liwei(Respiratory Medicine Department,Beijing Children’s Hospital,Capital Medical University,National Clinical Research Center of Respiratory Diseases,National Center for Children’s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,国家呼吸系统疾病临床医学研究中心,首都医科大学附属北京儿童医院呼吸科,北京100045

出　　处：《中华医学遗传学杂志》2022年第4期433-437,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(32000590)。

摘　　要：原发性纤毛运动障碍综合征(primary ciliary dyskinesia,PCD)是一种基因型与表型高度异质的隐性遗传病,主要由运动纤毛的结构和(或)功能异常所导致。其临床表现多样,目前尚无统一的诊断标准,基因检测结合其他的辅助检查有助于PCD的早期诊断。截至目前,已发现40多种与PCD相关的致病基因,但大量的研究多局限在几个常见的变异基因上,缺少对其他PCD致病基因的关注和报道。本文中我们将对PCD的致病基因和相应的纤毛功能改变特点进行综述,以期为其临床早期诊断提供理论依据。Primary ciliary dyskinesia(PCD)is a recessive genetic disorder of motile cilia with substantial genetic and phenotypic heterogeneity.Clinical features of PCD vary from one patient to another,and no single test has the sensitivity and specificity to accurately diagnose PCD.Genetic testing combined with other auxiliary tests can facilitate the confirmatory diagnosis of PCD.So far more than 40 genes have been associated with PCD,but most research have focused on common genes,which hinders our understanding of other rare PCD-genes.This review has summarized the PCD-associated genes and the corresponding characteristics of dysfunctional cilia,with an aim to provide a basis for early identification of such diseases.

关 键 词：原发性纤毛运动障碍综合征 运动纤毛 基因变异 内脏转位 超微结构 

分 类 号：R596.1[医药卫生—内科学]