Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy.
10.3760/cma.j.issn.1003-9406.2019.10.020
- 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. qh_wu77@163.com.
- Publication Type:Journal Article
- MeSH:
Barth Syndrome;
genetics;
Cardiomyopathy, Dilated;
genetics;
Echocardiography;
Female;
Genetic Testing;
High-Throughput Nucleotide Sequencing;
Humans;
Hydrops Fetalis;
genetics;
Male;
Mutation;
Pregnancy;
Transcription Factors;
genetics
- 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.
