《生命科学》 2022, 34(2): 171-178

CC2D2A基因突变导致的纤毛病

张文杰¹ , 肖代敏² , 闫旭东¹ , 吴明松³ , 张志敏^1,*

¹遵义医科大学医学遗传学教研室，遵义 563006 ²遵义医科大学附属医院检验科，遵义 563006 ³贵州省普通高等学校口腔疾病研究特色重点实验室暨遵义市口腔疾病研究重点实验室，遵义 563006

摘　要：

卷曲螺旋及含2A 的C2 结构域蛋白(coiled-coil and C2 domain containing 2A, CC2D2A) 是纤毛的重要蛋白，与多种纤毛蛋白形成MKS 复合体和NPHP 复合体，对维持过渡区(transition zone) 的功能、参与初级纤毛中的信号转导、促进囊泡与纤毛膜之间的蛋白质转运等起着重要作用。CC2D2A 基因突变导致三种纤毛病，包括Joubert 综合征、Meckel 综合征和Coach 综合征，相关发病机制仍不明确。该文总结了CC2D2A 基因的功能和突变位点，讨论了不同突变导致的纤毛病，并且展望了潜在的治疗方案，为临床预防和治疗CC2D2A 基因突变导致的纤毛病提供参考。

通讯作者：张志敏 , Email:zzm_zhangzhimin@126.com

Ciliopathies caused by mutations in CC2D2A gene

ZHANG Wen-Jie¹ , XIAO Dai-Ming² , YAN Xu-Dong¹ , WU Ming-Song³ , ZHANG Zhi-Min^1,*

¹Department of Medical Genetics, Zunyi Medical University, Zunyi 563006, China ²Clinical Laboratory, Affiliated Hospital of Zunyi Medical University, Zunyi 563006, China ³Special Key Laboratory of Oral Disease Research and High Education Institute in Guizhou Province, Zunyi 563006, China

Abstract:

Coiled-coil and C2 domain containing 2A (CC2D2A) is an important cilia protein, forming MKS and NPHP complexes with various ciliary proteins. It plays a key role in maintaining the function of the transition zone, participating in signal transduction in the primary cilium, and promoting protein transport between vesicles and cilia membrane. Mutations in the CC2D2A gene can lead to a series of ciliopathies, including Joubert syndrome, Meckel syndrome and Coach syndrome, but their pathological mechanisms are still unclear. In this paper, the function and mutation sites of the CC2D2A gene are summarized, the ciliopathies caused by different mutations are discussed, and potential treatment plans are examined to provide reference for the clinical prevention and treatment of ciliopathies caused by CC2D2A gene mutations.

Communication Author：ZHANG Zhi-Min , Email:zzm_zhangzhimin@126.com