产前水肿胎儿FLT 4基因变异家系遗传学分析  

Genetic Analysis of FLT4 Gene Mutation in Prenatal Edema Fetus

作　　者：曾丽娜[1] 张艳[1] 林荔[1] 董娴[1] ZENG Lina;ZHANG Yan;LIN Li;DONG Xian(Center of Prenatal Diagnosis,The Affiliated Hospital of Putian University,Putian Fujian 351100,China)

机构地区：[1]莆田学院附属医院产前诊断中心,福建莆田351100

出　　处：《莆田学院学报》2024年第2期46-51,共6页Journal of putian University

摘　　要：探讨1例产前超声表现为胸腹水的胎儿水肿病例的遗传学病因。采集胎儿的羊水及其父母的外周血,应用全外显子测序(whole exome sequencing,WES)技术,筛查出与临床表型相关的致病变异位点,并通过Sanger测序进行位点验证。结果:WES及Sanger测序证实胎儿FLT4基因第20号外显子存在c.2764C>G(p.P922A)变异,为新发杂合变异。该变异在正常参考人群基因数据库中未收录,多种软件辅助分析预测该变异影响蛋白质结构/功能可能性大。依据美国医学遗传学与基因组学学会遗传变异分类标准与指南,c.2764C>G(p.P922A)为可疑致病性变异(PS2+PM1+PM2+PP3)。结论:FLT4基因c.2764C>G(p.P922A)杂合变异可能为本例胎儿水肿的致病原因,可为家系遗传咨询提供依据。To investigate the genetic etiology of a case of fetal edema with prenatal ultrasound manifestations of pleural effusion and ascites,the amniotic fluid of fetus and the peripheral blood of its parents were collected,and the whole exome sequencing(WES)technology was used to screen the pathogenic mutation sites related to clinical phenotype,and the sites were verified by Sanger sequencing.Results:WES and Sanger sequencing confirmed that there was a c.2764 C>G(p.p922a)mutation in the 20th exon of fetal FLT4 gene,which was a new heterozygous mutation.This mutation is not included in the gene database of normal reference population,and it is likely to affect the protein structure/function by a variety of software aided analysis and prediction.According to the classification criteria and guidelines of genetic variation of the American Society of Medical Genetics and Genomics,c.2764C>G(p.p922a)is a suspected pathogenic variation(PS2+PM1+PM2+PP3).Conclusion:the heterozygous variation of FLT4 gene c.2764C>G(p.p922a)may be the cause of fetal edema in this case,which can provide the basis for family genetic counseling.

关 键 词：胎儿水肿 FLT4基因 全外显子测序 Sanger测序 

分 类 号：R714.5[医药卫生—妇产科学]