[Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 36(10): 1022-1024, 2019 Oct 10.
Article
em Zh
| MEDLINE
| ID: mdl-31598951
ABSTRACT
OBJECTIVE:
To explore the genetic basis for a fetus suspected for congenital nephrotic syndrome of Finland (CNF).METHODS:
Genomic DNA was extracted from peripheral and umbilical cord blood samples derived from both parents and the fetus. Potential variants were detected by using next-generation sequencing. Suspected variants were confirmed by Sanger sequencing.RESULTS:
The fetus was found to carry compound heterozygous variants c.1440+1G>A and c.925G>T of the NPHS1 gene, which were respectively inherited from its mother and father.CONCLUSION:
Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome Nefrótica
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Female
/
Humans
/
Pregnancy
País/Região como assunto:
Europa
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2019
Tipo de documento:
Article
País de afiliação:
China