Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1022-1024, 2019.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-796472
Biblioteca responsável:
WPRO
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:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Tipo de estudo:
Estudo diagnóstico
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo