KMT2E基因突变致癫痫机制探讨  

Study on the mechanism of epilepsy caused by KMT2E gene mutation

作　　者：缪勤飞 马红霞 翟琼香[1] 张宇昕[1] 郭予雄[1] 陈志红[1] MIAO Qin-fei;MA Hong-xia;ZHAIQiong-xiang;ZHANG Yu-xin;GUO Yu-xiong;CHEN Zhi-hong(Department of Pediatrics,Guangdong General Hospital,Guangdong Academy of Medical Sciences,Guangdong Academy of Neuroscience,Guangzhou 510080,Guangdong,China)

机构地区：[1]广东省人民医院儿科、广东省医学科学院、广东省神经研究所,广东广州510080

出　　处：《广东医学》2021年第5期550-553,共4页Guangdong Medical Journal

基　　金：国家自然科学基金资助项目(81701284);广州市科技计划项目(202002030428);广东省科技计划项目(2017A020215052);国家“重大慢性非传染性疾病防控研究”重点专项“儿童脑发育障碍的早期识别和综合干预”项目子课题(2016YFC1306201);广东省登峰计划专项(KJ012019451)。

摘　　要：目的回顾KMT2E基因突变位点,探讨KMT2E基因突变致癫痫的相关机制,并报道1例具有KMT2E基因新突变位点的案例。方法查找各数据库复习相关文献,同时回顾分析1例癫痫患儿的临床资料以及采用二代测序方法进行的全外显子基因捕获检测结果,对其就诊过程进行回顾随访。结果在既往的报道中KMT2E多与髓系白血病相关,后于癫痫患者中发现该基因相关突变,该基因相关突变在国内未见有相关报道。KMT2E可通过介导三胸类组蛋白对细胞中蛋白质的合成及装配产生影响。患儿,男,61月龄,确诊癫痫36个月。基因检测结果显示,患儿KMT2E基因存在杂合变异c.2333C>G(p.Thr778Ser),既往各数据库对该突变位点均无相关致病性报道,生物信息学软件预测为可能致病性变异。结论KMT2E基因突变极可能通过三胸类组蛋白影响下游蛋白的表达进而导致癫痫。KMT2E基因的c.2333C>G(p.Thr778Ser)突变极可能是导致癫痫的原因之一,基因检测有助于早期诊断和治疗。Objective To review the mutation sites of KMT2E gene,to investigate the mechanism of epilepsy caused by KMT2E gene mutation;and to report a case with a new mutation site of KMT2E gene.Methods The relevant literatures were reviewed in each database,and the clinical data of a child with convulsions and the results of full exon gene capture detection by the second generation sequencing method were retrospectively analyzed.Results In previous reports,KMT2E was mostly associated with myeloid leukemia,and the gene-related mutation was found in patients with epilepsy.This gene-related mutation has not been reported in China.KMT2E can affect the synthesis and assembly of proteins in cells by mediating thirthorax histone.Our case was a male child,61 months old,complained with repeated convulsions for 3 years.The results of gene detection showed that there was heterozygous variation at c.2333 C>G(p.Thr778 Ser)in KMT2E gene.There was no related pathogenicity report on this mutation site in previous databases,which was predicted by bioinformatics software as possible pathogenicity variation.Conclusion KMT2E gene mutation is very likely to affect the expression of downstream proteins through thrithorax histones and then lead to epilepsy.The c.2333 C>G(p.Thr778 Ser)mutation of KMT2E gene may be one of the causes of convulsions,and genetic detection is helpful for early diagnosis and treatment.

关 键 词：癫痫 KMT2E 遗传 

分 类 号：R742.1[医药卫生—神经病学与精神病学] Q343.5[医药卫生—临床医学]