Genetic analysis of a family with recurrent hydrops fetalis and dilated cardiomyopathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1028-1030, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-776750
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fatores de Transcrição
/
Ecocardiografia
/
Cardiomiopatia Dilatada
/
Hidropisia Fetal
/
Testes Genéticos
/
Síndrome de Barth
/
Sequenciamento de Nucleotídeos em Larga Escala
/
Genética
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Masculino
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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