Prenatal diagnosis of a fetus affected with Finnish type congenital nephrotic syndrome
Journal: Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal Of Medical Genetics
Published:
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.
Conclusions: Identification of the compound heterozygous NPHS1 variants has enabled diagnosis of CNF in the fetus and genetic counseling for the affected family.
Authors
Yan Chu, Qiaofang Hou, Dong Wu, Guiyu Lou, Ke Yang, Liangjie Guo, Na Qi, Xiaoxiao Duan, Wei Wang, Litao Qin, Shixiu Liao
Relevant Conditions