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
en Zh
| WPRIM
| ID: wpr-776752
Biblioteca responsable:
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:
1
Base de datos:
WPRIM
Asunto principal:
Diagnóstico Prenatal
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Diagnóstico
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Feto
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Finlandia
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Genética
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Heterocigoto
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Proteínas de la Membrana
/
Síndrome Nefrótico
Tipo de estudio:
Diagnostic_studies
Límite:
Female
/
Humans
/
Pregnancy
País/Región como asunto:
Europa
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Article