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-  2017 

良性特发性眼睑痉挛患者的可能致病基因 The Possible Pathogenic Gene of Patients with Benign Essential Blepharospasm

Keywords: 良性特发性眼睑痉挛,遗传,二代测序,基因突变

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Abstract:

目的:探讨遗传因素对良性特发性眼睑痉挛(BEB)的可能影响。方法:选择2015年4月至2015年10月在武汉大学人民医院神经内科运动障碍专病门诊就诊的BEB患者20例。采取问卷调查的方式详细调查患者的情况,调查内容包括一般情况、病史摘要、治疗情况、既往病史(高血压病、糖尿病、脑外伤等)、家族史、危险/保护因素调查(吸烟、饮酒、饮茶、咖啡等)。在患者知情同意的情况下,抽取患者静脉血3-5ml。采用二代测序方法,检测可能导致运动障碍临床表现各类疾病相关的基因共151种,包括肌张力障碍27种、发作性共济失调4种、发作性运动诱发性运动障碍2种、发作性非运动诱发性运动障碍1种、特发性震颤3种、帕金森病78种以及ADCK3、AFG3L2、ANO10等。结果:20例患者中,男3例、女17例,平均年龄55.25(31-72)岁,病程平均6.15(1-24)年;有家族史者2例。未发现任何一种基因突变者2例;检测出两种基因突变者7例;SYNE1基因突变7例,CIZ1基因突变2例,CACNA1A基因突变2例,LRRK2基因突变2例,FUS基因突变2例;C10orf2、TPP1、SLC1A3、PNKD、EIF4G1、SETX、PRRT2、SPTBN2和TTBK2基因突变者各1例。结论:眼睑痉挛和其它肌张力障碍性疾病一样,存在遗传学基础。CIZ1和SYNE1基因突变极有可能与眼睑痉挛有关。我们需要扩大样本量来进一步筛选基因,或通过家系研究来寻找易感基因。并进一步在动物实验中验证

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