A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2  

作　　者：Liang-Liang Qiu Xiao-Dan Lin Guo-Rong Xu Li-Li Wang Zhi-Xian Ye Feng Lin Hai-Zhu Chen Min-Ting Lin Nai-Qing Cai Ming Jin Liu-Qing Xu Wei Hu Ning Wang Zhi-Qiang Wang 

机构地区：[1]Department of Neurology,Institute of Neurology,The First Affiliated Hospital,Fujian Medical University,Fuzhou,Fujian 350005,China [2]Fujian Key Laboratory of Molecular Neurology,Fuzhou,Fujian 350005,China

出　　处：《Chinese Medical Journal》2021年第22期2753-2755,共3页中华医学杂志（英文版）

基　　金：the National Natural Science Foundation of China(Nos.81671237,81974193).

摘　　要：To the Editor:Facioscapulohumeral muscular dystrophy type 2(FSHD2)is an epigenetic myopathy caused by variants in genes encoding chromatin regulators,such as SMCHD1:these variants lead to derepression of the D4Z4-encoded DUX4 retrogene in skeletal muscle.[1]The core phenotype of FSHD is progressive muscle weakness in such body parts as the face,shoulder girdle,and upper limbs.Additionally,FSHD may affect the axial muscles and produce bent spine syndrome.Several studies have reported that FSHD2 is associated with causative variants in SMCHD1,[1,2]but to the best of our knowledge,no Chinese FSHD2 patient has been reported.In this report,we presented a Chinese FSHD2 family with D4Z4 hypomethylation and identified a novel start codon variant(c.1 A>G)in SMCHD1.This study was approved by the Ethics Committee for Medical Research of the First Affiliated Hospital of Fujian Medical University(No.2016[17]).Informed consent was obtained from each partici-pant and parent of the participant younger than 18 years of age.

关 键 词：DYSTROPHY MUSCULAR YOUNGER 

分 类 号：R746.4[医药卫生—神经病学与精神病学]