血管紧张素转化酶基因突变相关的羊水过少胎儿一例遗传学分析  

Genetic analysis of a fetus with oligohydramnios caused by ACE gene mutation

作　　者：高旭[1] 吴庆华[1] GAO Xu;WU Qinghua(Center of Genetics and Prenatal Diagnosis,the First Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第4期585-587,共3页Journal of Zhengzhou University(Medical Sciences)

基　　金：国家自然科学基金项目(81701497)。

摘　　要：目的:明确一例羊水过少胎儿的遗传学病因。方法:妊娠22^(+2)周对胎儿行超声检查发现羊水指数30 mm并双肾回声稍增,予以低分子量肝素和羊膜腔灌注4周余,胎儿羊水指数未改善。妊娠26^(+6)周超声检查示羊水指数43 mm并双肾回声增强,胎儿父母要求终止妊娠。取引产后的胎儿皮肤及父母外周血行全外显子组测序。结果:全外显子组测序和Sanger测序显示父母携带ACE基因c.1028G>A(p.Trp343X)杂合突变。胎儿携带血管紧张素转化酶(ACE)基因c.1028G>A(p.Trp343X)纯合突变,该突变来源于正常表型的父母。结论:特发性羊水过少可能与ACE基因突变相关的肾小管发育不良有关。Aim:To explore the genetic etiology of a fetus with oligohydramnios.Methods:A fetus at 22^(+2) weeks′gestation was found with amniotic fluid index(AFI)of 30 mm and slightly enhanced echo of both kidneys.The pregnant woman was admitted to get supportive treatment including low molecular weight heparin calcium and amnioinfusion for 4 weeks.No prominent improvement of fetal AFI was found and the AFI decreased to 43 mm by 26^(+6) weeks′gestation,and enhanced echo of both kidneys.The parents terminated the pregnancy after genetic counselling.Whole exome sequencing was performed on the fetal skin and the parents′peripheral blood.Results:Whole exome sequencing and sanger sequencing showed that the patients carried heterozygous mutation c.1028G>A(p.Trp343X).The fetus was detected to carry a homozygous mutation c.1028G>A(p.Trp343X)of angiotensin-converting enzyme(ACE)gene,originated from the parents with normal phenotype,leading to the diagnosis of renal tubular dysgenesis.Conclusion:The fetus with oligohydramnios may be associated with renal tubular dysgenesis caused by ACE gene mutation.

关 键 词：羊水过少 血管紧张素转化酶基因 肾小管发育不良 全外显子组测序 

分 类 号：R715.5[医药卫生—妇产科学]