86例癫痫性脑病患儿的遗传特征研究

Genetic Characteristics of 86 Children with Epileptic Encephalopathy

目的:探讨癫痫性脑病(EE)患儿的遗传特征,明确分子水平病因。方法:以86例不明原因EE患儿为研究对象,对其进行家系全外显子组测序(WES)及基因组拷贝数变异(CNV)分析。结果:86例EE患儿中,具有明确致病意义的遗传变异51例(59.30%),包括基因突变46例(53.49%),CNV 5例(5.81%);其中新生突变44例,占总致病变异的86.27%。86例EE患儿中,新生儿期发病11例,婴儿期发病52例,幼儿期发病18例,学龄前期发病5例。结论:儿童EE基因突变率高,以新生突变为主,发病年龄以婴幼儿期为主。

Objective:To explore the genetic characteristics of children with epilepsy encephalopathy(EE),and to determine the molecular level etiology.Methods:A total of 86 children with unexplained EE were re-cruited.Whole exon sequencing(WES)and genomic copy number variant(CNV)analysis were performed.Re⁃sults:Among the 86 children with EE,there were 51 cases(59.30%)of genetic variation with definite pathoge-nicity,including 46(53.49%)with gene mutation and 5(5.81%)with CNV mutation;among these 51 cases,44(86.27%)had de novo variants.Of the 86 children with EE,11 experienced disease onset during the neonatal pe-riod,52 during infancy,18 during early childhood,and 5 during preschool age.Conclusion:The gene mutation rate in childhood EE is high.Mutation is mainly de novo,and onset occurs primarily during infancy and early childhood.