Whole exome sequencing revealed a heterozygous elongation factor Tu GTP-binding domain containing 2(EFTUD2)mutation in a couple experiencing recurrent pregnancy loss

作     者：Mei Yang Huaqin Sun Yanyan Liu Ting Hu Mei Yang;Huaqin Sun;Yanyan Liu;Ting Hu

作者机构：Department of Obstetrics and GynecologyWest China Second University HospitalSichuan UniversityChengduSichuan 610041China Key Laboratory of Birth Defects and Related Diseases of Women and ChildrenSichuan UniversityMinistry of EducationChengduSichuan 610041China Department of PediatricsWest China Second University HospitalSichuan UniversityChengduSichuan 610041China SCU-CUHK Joint Laboratory for Reproductive MedicineWest China Second University HospitalSichuan UniversityChengduSichuan 610041China 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2022年第135卷第9期

页      面：1108-1110页

核心收录：

学科分类：100208[医学-临床检验诊断学] 1002[医学-临床医学] 100211[医学-妇产科学] 10[医学] 

基　　金：This work was supported by grants from the Technology Research and Development Program of Science and Technology Department of Sichuan Province(Nos.2017SZ0125 2021YFS0026 and 2020ZYD007)。 

主　　题：pregnancy Whole sized 

摘      要：To the Editor:Recurrent pregnancy loss(RPL)is defined as the failure of two or more clinically recognized pregnancies.[1]Both parental and embryonic/fetal factors are associated with RPL.Parental factors include balanced chromosome rearrangements,maternal antiphospholipid syndrome,uterine anomalies,and hormonal or metabolic disorders.[2]Of the examined products of conception(POC),approximately 60%of early pregnancy losses result from sporadic chromosomal abnormalities in embryos,specifically numeric chromosome errors.However,up to 50%of RPL cases remain unexplainable by known causes.Here,we report a couple who have experienced four consecutive clinical pregnancy losses within 10 weeks of gestation,and describe a novel(elongation factor Tu GTP-binding domain containing 2[EFTUD2],Online Mendelian Inheritance in Man[MIM]#603892)nonsense mutation(c.1012GT,p.E338∗)found in embryonic tissues from each of the last three miscarriages by whole exome sequencing(WES)analysis.In addition,we generated a zebrafish line with a mutation homologous to the human EFTUD2 disruption to investigate the relationship between this mutation and RPL.We hypothesized that the mutation was associated with embryonic lethality,which may induce RPL in patients.The study was approved by the Medical Ethics Committee of the West China Second University Hospital,Sichuan University,China(No.2016[029]).Written informed consent was obtained from the couple before genetic testing.