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Case Reports in Genetics
Volume 2017 (2017), Article ID 2357282, 7 pages
Case Report

Three Novel Mutations in the NPHS1 Gene in Vietnamese Patients with Congenital Nephrotic Syndrome

1Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam
2Faculty of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam
3Vietnam National Hospital of Pediatrics, Hanoi, Vietnam
4Hanoi Medical University, Hanoi, Vietnam

Correspondence should be addressed to Huy Hoang Nguyen

Received 8 November 2016; Revised 26 December 2016; Accepted 13 February 2017; Published 14 March 2017

Academic Editor: David B. Kershaw

Copyright © 2017 Thi Kim Lien Nguyen et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Congenital nephrotic syndrome, a rare and severe disease, is inherited as an autosomal recessive trait. The disease manifests shortly after birth and occurs predominantly in families of Finnish origin but has now been observed in all countries and races. Mutations in the NPHS1 gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of the NPHS1 gene in three unrelated children from three different Vietnamese families. These patients were examined and determined to be suffering from congenital nephrotic syndrome in the Department of Pediatrics, Vietnam National Hospital of Pediatrics. All 29 exons and exon-intron boundaries of NPHS1 were analyzed by PCR and DNA sequencing. Genetic analysis of the NPHS1 gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs12) in patient 1. In patient 2, one heterozygous variant p.Glu117Lys and one novel heterozygous missense mutation p.Ser324Ala were identified. Finally, a novel missense mutation p.Arg802Leu and a novel nonsense mutation (c.2442C>G causing p.K792) were identified in patient 3.