全外显子组测序在一例儿童Hutchinson-Gilford早老基因分析及产前诊断中的应用  

Whole Exome Sequencing and Prenatal Diagnosis of a Family with Hutchinson-Gilford Progeria Syndrome

作　　者：赵倩凤 龚珠文[1,2] ZHAO Qian-feng;GONG Zhu-wen(Xinhua Hospital Affiliated to Shanghai Jiaotong University Medical College,Shanghai 200092,China;Shanghai Institute for Pediatric Research,Shanghai 200092,China)

机构地区：[1]上海交通大学医学院附属新华医院,上海200092 [2]上海市儿科医学研究所,上海200092

出　　处：《罕少疾病杂志》2025年第2期1-2,共2页Journal of Rare and Uncommon Diseases

基　　金：上海市教委高峰高原计划研究型医师(2020001)。

摘　　要：目的采用全外显子组测序技术(whole exome sequencing,WES)联合Sanger测序检测儿童Hutchinson-Gilford早老症基因LMNA 1例,并对该家系进行产前诊断。方法通过全外显子组测序,对先证者进行检测分析,检测到基因LMNA上的致病变异,对先证者及其父母进行Sanger测序,验证该变异。先证者母亲再次妊娠后,提取羊水标本DNA,应用Sanger测序检测该致病基因位点,进行产前诊断。结果先证者LMNA基因携带c.1824C>T,p.(=)杂合变异。而其表型未见异常的父亲和母亲均未检出该变异。先证者母亲再次妊娠的产前诊断结果为未携带LMNA基因c.1824C>T,p.(=)变异。结论WES可用于儿童Hutchinson-Gilford早老症家系致病变异的检出,联合Sanger测序可为患者家系的遗传咨询和产前诊断提供依据,且该方法具有准确性、快速性、经济性的优点。Objective One case of Hutchinson-Gilford progeria syndrome in a child was tested by using whole exome sequencing(WES)and Sanger sequencing for the LMNA gene,and the prenatal diagnosis was performed for this family.Methods WES was used to find pathogenic variants of LMNA in the proband.The parental origin of variants was assessed by Sanger sequencing.DNA was extracted from the peripheral blood of the proband and parents,as well as the amniotic fluid of the mother.Sanger sequencing was used in the prenatal diagnosis based on the identified variant.Results A known heterozygous mutation c.1824C>T,p.(=)was detected in the LMNA gene in the proband,but not found in his unaffected parents.The prenatal diagnosis based on the amniotic fluid revealed that the fetus did not harbor LMNA c.1824C>T,p.(=)mutation.Conclusion WES combined with Sanger sequencing can be used to detect the pathogenic variants in the diagnose of HGPS,and prenatal diagnosis of this syndrome is feasible.This method is fast,accurate and cost-effective.

关 键 词：Hutchinson-Gilford早老症 全外显子组测序 LMNA基因 早衰 产前诊断 

分 类 号：R596.2[医药卫生—内科学]