Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome.
10.3760/cma.j.issn.1003-9406.2019.10.018
- Author:
Yan CHU
1
;
Qiaofang HOU
;
Dong WU
;
Guiyu LOU
;
Ke YANG
;
Liangjie GUO
;
Na QI
;
Xiaoxiao DUAN
;
Wei WANG
;
Litao QIN
;
Shixiu LIAO
Author Information
1. Institute of Medical Genetics, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. chuyan1009@126.com.
- Publication Type:Journal Article
- MeSH:
Female;
Fetus;
Finland;
Heterozygote;
Humans;
Membrane Proteins;
genetics;
Nephrotic Syndrome;
congenital;
diagnosis;
Pregnancy;
Prenatal Diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(10):1022-1024
- CountryChina
- Language:Chinese
-
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.
