[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
en 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
Base de datos:
MEDLINE
Asunto principal:
Síndrome Nefrótico
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
País/Región como asunto:
Europa
Idioma:
Zh
Revista:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Asunto de la revista:
GENETICA MEDICA
Año:
2019
Tipo del documento:
Article