山东医药2025，Vol.65Issue(4)：123-127,5.DOI:10.3969/j.issn.1002-266X.2025.04.025
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
刘聪 1罗海宁 1张帅 1张印峰1
作者信息
- 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||天津市人类发育与生殖调控重点实验室,天津 300100
- 折叠
摘要
Abstract
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Key words
Vici syndrome/whole exome sequencing/EPG5 gene/compound heterozygous variants/prenatal di-agnosis分类
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刘聪,罗海宁,张帅,张印峰..1个Vici综合征家系的EPG5基因检测结果分析[J].山东医药,2025,65(4):123-127,5.
