无创产前诊断EDA基因突变致外胚层发育不良一例  

Non-invasive prenatal diagnosis of ectodermal dysplasia caused by EDA gene mutation:a case report

作　　者：代鹏[1] 赵干业 王晓锋 王聪慧 郜珊珊 夏俊珂 孔祥东[1] Dai Peng;Zhao Ganye;Wang Xiaofeng;Wang Conghui;Gao Shanshan;Xia Junke;Kong Xiangdong(Genetic and Prenatal Diagnosis Center,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China;Hunan Research Center for Big Data Application in Genomics Genetalks Inc,Changsha 410152,China)

机构地区：[1]郑州大学第一附属医院遗传与产前诊断中心,450052 [2]人和未来生物科技(长沙)有限公司,长沙410152

出　　处：《中华围产医学杂志》2020年第7期456-459,共4页Chinese Journal of Perinatal Medicine

基　　金：国家重点研发计划(2018YFC1002203);河南省医学科技攻关联合共建项目(2018020036)。

摘　　要：本文报道了1例无创产前诊断EDA基因突变致胎儿外胚层发育不良的病例。该孕妇曾生育过外胚层发育不良患儿,此次停经11周来郑州大学第一附属医院遗传与产前诊断中心就诊。采用游离DNA单分子标签检测(cell free DNA barcode-enabled single-molecule test,cfBEST)技术对孕妇及胎儿行无创产前检测,并进行绒毛活检取材术验证。结果显示,孕妇EDA基因c.340C>T(p.Gln114*)为杂合型,胎儿基因型为正常野生型C/C,与绒毛活检取材产前诊断结果一致。提示cfBEST技术可用于外胚层发育不良EDA基因点突变的无创产前诊断。We report a case of non-invasive prenatal diagnosis of fetal ectodermal dysplasia caused by EDA gene mutations.The pregnant woman underwent prenatal diagnosis at 11 gestational weeks because of a childbearing history of ectodermal dysplasia.Cell-free DNA barcode-enabled single-molecule test(cfBEST)was used to detect the ectodermal dysplasia gene mutation,and chorionic villus sampling was also performed.The cfBEST results showed that the genotype of maternal EDA gene c.340C>T(p.Gln114*)was heterozygous,while the genotype of fetal EDA was normal wild-type(C/C),which were consistent with the results of villus sampling,suggesting that cfBEST can be used for non-invasive prenatal diagnosis of ectodermal dysplasia caused by EDA gene mutation.

关 键 词：外胚层发育不良症 外胚层发育不全蛋白质类 突变 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]