《生命科学》 2023, 35(11): 1399-1407

腓骨肌萎缩症的分型与分子诊断技术

李　尧¹ , 戴诗苗¹ , 朱俊颖¹ , 马苗苗¹ , 程敏宁² , 周继昌^1,*

¹中山大学公共卫生学院(深圳)，深圳 518107 ²东莞市中堂镇卫生健康局，东莞 523220

摘　要：

腓骨肌萎缩症(Charcot-Marie-Tooth disease, CMT) 是一种最常见的遗传性周围神经病，虽然常以腓骨肌萎缩和肢端骨骼畸形、运动与感觉障碍等为主要临床表现，但先天致病基因和后天影响因素的不同使该病具有高度的临床和遗传异质性；而对CMT 类型的精细分类，更多是依据不同致病基因及其突变。随着近几年二代测序为代表的高通量测序技术的不断发展，已经确定了100 多个CMT 的致病基因和更多的新突变。本文主要阐述了CMT 的遗传分型和临床特征，特别是四种常见CMT 亚型的致病基因在神经细胞内参与的信号转导通路、CMT 电生理和分子病理特征，以及CMT 基因突变检测方法，以期为罕见病CMT的基础研究与临床诊断提供参考。

通讯作者：周继昌 , Email:zhoujch8@mail.sysu.edu.cn

Classification and molecular diagnostic techniques of Charcot-Marie-Tooth disease

LI Yao¹ , DAI Shi-Miao¹ , ZHU Jun-Ying¹ , MA Miao-Miao¹ , CHENG Min-Ning² , ZHOU Ji-Chang^1,*

¹School of Public Health (Shenzhen), Sun Yat-sen University, Shenzhen 518107, China ²Health Bureau of Zhongtang Town, Dongguan 523220, China

Abstract:

Charcot-Marie-Tooth disease (CMT) is among the most common hereditary peripheral neuropathies. Although its primary clinical manifestations are peroneal muscle atrophy, limb skeletal deformities, and distal motor and sensory disorders, it exhibits a high degree of clinical and genetic heterogeneity due to variations in congenital athogenic genes and acquired  influencing factors. The precise classification of CMT types largely hinges upon different pathogenic genes and their mutations. With the continuous development of high-throughput sequencing technology, particularly next-generation sequencing, more than 100 pathogenic genes for CMT and numerous new mutations have been identified. This review mainly elaborates on the genetic classification and clinical characteristics of CMT, especially the molecular pathways of pathogenic genes in neurocytes, the electrophysiological and molecular pathological features of four common CMT subtypes, as well as methods for detecting gene mutations in CMT, aiming to provide a reference for the basic research and clinical diagnosis of this rare disease.

Communication Author：ZHOU Ji-Chang , Email:zhoujch8@mail.sysu.edu.cn