1个Vici综合征家系的EPG5基因检测结果分析  

Genetic analysis of EPG5 gene in a family with Vici syndrome

作　　者：刘聪[1,2] 罗海宁 张帅 张印峰[1,2] LIU Cong;LUO Haining;ZHANG Shuai;ZHANG Yinfeng(Center for Reproductive Medicine,Maternity Hospital of Nankai University,Tianjin Central Hospital of Obstetrics and Gyneclogy,Tianjin 300100,China;不详)

机构地区：[1]南开大学附属妇产医院、天津市中心妇产科医院生殖医学中心,天津300100 [2]天津市人类发育与生殖调控重点实验室,天津300100

出　　处：《山东医药》2025年第4期123-127,共5页Shandong Medical Journal

摘　　要：目的分析1个Vici综合征(VICIS)家系的EPG5基因检测结果,为其产前诊断提供依据并给予再生育指导。方法对胎儿及父母行全外显子组测序,筛选出潜在致病变异位点并进行验证,另针对位点进行生物信息学预测分析。结果遗传学检测结果显示,胎儿携带EPG5基因c.5704dupT(p.Tyr1902LeufsTer2)和c.7204T>A(p.Trp2402Arg)复合杂合变异,遗传自无表型的父母;按照美国医学遗传学学会变异分类指南,c.5704dupT为致病性变异(PVS1+PM3+PM2_Supporting),c.7204T>A为临床意义不明确(PM3+PM2_Supporting+PP3)。生物信息学预测结果显示,c.7204T>A为有害变异。结论EPG5基因c.7204T>A和c.5704dupT复合杂合变异可能为该家系胎儿的致病原因,丰富了EPG5基因的变异谱,可为VICIS的产前诊断提供依据及再生育提供指导。Objective To analyze the detection results of the EPG5 gene in a family with Vici syndrome(VICIS),to provide evidence for prenatal diagnosis and to offer guidance on subsequent reproduction.Methods Whole exome se-quencing(WES)was performed on the fetus and parents,and potential pathogenic mutation sites were screened,fol-lowed by validation and bioinformatics analysis.Results Genetic test results revealed that the fetus carried compound heterozygous variants c.5704dupT(p.Tyr1902LeufsTer2)and c.7204T>A(P.Tyrp2402ARG)in EPG5,which were in-herited from the phenotypically normal parents.According to The American College of Medical Genetics and Genomics guidelines,c.5704dupT was classified as pathogenic(PVS1+PM3+PM2_Supporting),and c.7204T>A was classified as variants of uncertain significance(PM3+PM2_Supporting+PP3).The results of bioinformatics prediction showed that c.7204T>A was a deleterious variant.Conclusions The compound heterozygous variants c.7204T>A and c.5704dupT in EPG5 gene may be the pathogenic cause of the fetus in this family.The detection of new variants expands the variation spectrum of EPG5 gene and can provide a basis for the prenatal diagnosis of VICIS and offer guidance for subsequent re-production.

关 键 词：Vici综合征 全外显子组测序 EPG5基因 复合杂合变异 产前诊断 

分 类 号：R596[医药卫生—内科学]