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.
Article
in Chinese
| WPRIM
| ID: wpr-776752
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prenatal Diagnosis
/
Diagnosis
/
Fetus
/
Finland
/
Genetics
/
Heterozygote
/
Membrane Proteins
/
Nephrotic Syndrome
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Pregnancy
Country/Region as subject:
Europa
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2019
Type:
Article
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