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Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy / 中华医学遗传学杂志
Article in Zh | WPRIM | ID: wpr-776750
Responsible library: WPRO
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.
Subject(s)
Full text: 1 Index: WPRIM Main subject: Transcription Factors / Echocardiography / Cardiomyopathy, Dilated / Hydrops Fetalis / Genetic Testing / Barth Syndrome / High-Throughput Nucleotide Sequencing / Genetics / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article
Full text: 1 Index: WPRIM Main subject: Transcription Factors / Echocardiography / Cardiomyopathy, Dilated / Hydrops Fetalis / Genetic Testing / Barth Syndrome / High-Throughput Nucleotide Sequencing / Genetics / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Male / Pregnancy Language: Zh Journal: Chinese Journal of Medical Genetics Year: 2019 Type: Article