Dong Hongjuan, Luo Ying, Fan Shanghua, Yin Bo, Weng Chao, Peng Bin
Department of Neurology, Renmin Hospital of Wuhan University, Wuhan, China.
Front Neurol. 2020 Jan 23;10:1387. doi: 10.3389/fneur.2019.01387. eCollection 2019.
This study aimed to screen gene mutations in Chinese patients with benign essential blepharospasm (BEB) to understand its etiology. Twenty BEB patients diagnosed by clinical manifestations between April 2015 and October 2015 were enrolled. All the cases were investigated by questionnaires about general conditions, social behavioral factors, environmental factors, psychological factors, genetic factors, and previous diseases. In each patient, a total of 151 genes related to movement disorders were analyzed by second-generation sequencing. Two patients had a family history of BEB, and they had SYNE1 and Cdkn1A-interacting zinc finger protein 1 (CIZ1) mutation, respectively. We found the SYNE1 mutation in seven patients, the CIZ1 mutation in two patients, the CACNA1A mutation in two patients, the LRRK2 mutation in two patients, and the FUS mutation in two patients. The C10orf2, TPP1, SLC1A3, PNKD, EIF4G1, SETX, PRRT2, SPTBN2, and TTBK2 mutations were found in only one patient, respectively, while not any mutation in the 151 genes were found in two patients. Some patients had mutations in two genes. Genetic factors, especially SYNE1 and CIZ1 mutations, contribute to the etiology of BEB.
本研究旨在筛查中国良性特发性眼睑痉挛（BEB）患者的基因突变，以了解其病因。纳入了2015年4月至2015年10月间根据临床表现诊断的20例BEB患者。所有病例均通过问卷对一般情况、社会行为因素、环境因素、心理因素、遗传因素和既往疾病进行调查。对每位患者，通过二代测序分析了总共151个与运动障碍相关的基因。2例患者有BEB家族史，分别有SYNE1和Cdkn1A相互作用锌指蛋白1（CIZ1）突变。我们在7例患者中发现了SYNE1突变，2例患者中发现了CIZ1突变，2例患者中发现了CACNA1A突变，2例患者中发现了LRRK2突变，2例患者中发现了FUS突变。C10orf2、TPP1、SLC1A3、PNKD、EIF4G1、SETX、PRRT2、SPTBN2和TTBK2突变分别仅在1例患者中发现，而2例患者在151个基因中未发现任何突变。一些患者有两个基因的突变。遗传因素，尤其是SYNE1和CIZ1突变，与BEB的病因有关。
