Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy
10.3760/cma.j.issn.1003-9406.2019.10.020
- VernacularTitle: 一个扩张性心肌病水肿胎儿家系的遗传学分析
- Author:
Qinghua WU
1
;
Xiyang MA
;
Huirong SHI
;
Xiangdong KONG
;
Shumin REN
;
Zhihui JIAO
Author Information
1. Center of Genetics and Prenatal Diagnosis, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052 China
- Publication Type:Clinical Trail
- Keywords:
Non-immune hydrops fetalis;
Dilated cardiomyopathy;
Barth syndrome;
Next generation sequencing;
Genetic diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(10):1028-1030
- CountryChina
- Language:Chinese
-
Abstract:
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.
