Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome

VernacularTitle: 一个芬兰型先天性肾病综合征家系的NPHS1基因的变异检测与产前诊断
Author: Yan CHU ¹ ; Qiaofang HOU ¹ ; Dong WU ¹ ; Guiyu LOU ¹ ; Ke YANG ¹ ; Liangjie GUO ¹ ; Na QI ¹ ; Xiaoxiao DUAN ² ; Wei WANG ¹ ; Litao QIN ¹ ; Shixiu LIAO ¹
Author Information

1. Institute of Medical Genetics, Henan Provincial People’s Hospital, People’s Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China
2. Department of Ultrasonography, Henan Provincial People’s Hospital, Zhengzhou, Henan 450003, China
Publication Type:Clinical Trail
Keywords: Finnish type congenital nephrotic syndrome; NPHS1 gene; 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.