一个扩张性心肌病水肿胎儿家系的遗传学分析  

Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy

作　　者：吴庆华[1] 麻希洋 史惠蓉[1] 孔祥东[1] 任淑敏[1] 焦智慧[1] Wu Qinghua;Ma Xiyang;Shi Huirong;Kong Xiangdong;Ren Shumin;Jiao Zhihui(Center of Genetics and Prenatal Diagnosis,Department of Obstetrics and Gynecology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou,Henan 450052 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,妇产医学部450052

出　　处：《中华医学遗传学杂志》2019年第10期1028-1030,共3页Chinese Journal of Medical Genetics

摘　　要：目的对1个既往有心脏扩大伴水肿胎儿生育史,妊娠31周超声提示为扩张性心肌病合并水肿的胎儿进行遗传学分析,明确其病因并为家系的遗传咨询及产前诊断提供依据.方法获取胎儿组织样本及其父母外周血行染色体芯片及心肌病相关基因的高通量测序筛查,应用PCR及Sanger测序验证疑似致病基因变异位点.结果胎儿心脏超声符合扩张性心肌病表现,单核苷酸多态性芯片结果未见异常,高通量测序提示胎儿TAZ基因存在变异,PCR及Sanger测序结果显示胎儿携带TAZ基因c.481G>A(p.Gly161Arg)半合子变异,其母为c.481G>A(p.Gly161Arg)杂合变异携带者.结论TAZ基因c.481G>A(p.Gly161Arg)变异是该家系扩张性心肌病并水肿患儿的致病原因,基因检测结果为家系的遗传咨询及产前诊断提供依据.Objective To carry out genetic testing for a family with two pregnancies affected with hydrops fetalis and dilated cardiomyopathy(DCM)of the fetus.Methods DNA was extracted from fetal tissue as well as peripheral blood samples from the couple.Single nucleotide polymorphism array(SNP array)and next-generation sequencing(NGS)were carried out to screen potential mutation.Suspected mutation was validated with PCR and Sanger sequencing.Results The manifestation of fetal echocardiography was consistent with DCM.No obvious abnormality was found by SNP array analysis.A hemizygous c.481G>A(p.G161R)mutation of the TAZ gene was detected in the male fetus by NGS and confirmed by Sanger sequencing.The mutation was inherited from his mother.Conclusion Barth syndrome due to the c.481G>A mutation of the TAZ gene probably underlies the recurrent hydrops fetalis and fetal DCM in this family.

关 键 词：非免疫性胎儿水肿 扩张性心肌病 Barth综合征 高通量测序 基因诊断 

分 类 号：R714[医药卫生—妇产科学]