Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease
10.3760/cma.j.cn112138-20211010-00686
- VernacularTitle:腓骨肌萎缩症中国患者MFN2、BSCL2及LRSAM1基因突变分析
- Author:
Bo SUN
1
;
Zhengqing HE
;
Hongfen WANG
;
Yanran LI
;
Fei YANG
;
Fang CUI
;
Zhaohui CHEN
;
Xusheng HUANG
Author Information
1. 解放军总医院第一医学中心神经内科医学部，北京 100853
- Keywords:
Charcot-Marie-Tooth disease;
Neural conduction;
Genetic techniques;
Mutation
- From:
Chinese Journal of Internal Medicine
2022;61(8):901-907
- CountryChina
- Language:Chinese
-
Abstract:
Objective:Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants.Methods:In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General Hospital from December 2012 to March 2020 with clinical diagnosis of CMT, and reported variants of MFN2, BSCL2 and LRSAM1 related to CMT2.Results:We reported ten MFN2 mutations in ten unrelated patients (7 male, 3 female), two of whom had positive family history. Three novel mutations were detected including c.475-2A>G (splicing); c.687dupA (p.E230Rfs*16) and c.558dupT (p.S186fs). We reported three BSCL2 mutations of four unrelated patients, including c.461C>G (p.S154W), c.461C>T(p.S154L), and novel variants of c.1309G>C (p.A437P) and c.845C>T (p.A282V). Furthermore, two novel variants of LRSAM1, including c.1930G>T (p.G644C) and c.1178T>A (p.L393Q) were detected in two unrelated patients.Conclusion:Mutational spectrum of MFN2-, BSCL2-and LRSAM1-related CMT disease is expanded with the identification of novel variants in Chinese patients.
