title: Three Novel Mutations in theNPHS1Gene in Vietnamese Patients with Congenital Nephrotic Syndrome.
abstract: 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 theNPHS1gene, which encodes nephrin, are the main causes of congenital nephrotic syndrome in patients. In this study, we report the first mutational analysis of theNPHS1gene 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 ofNPHS1were analyzed by PCR and DNA sequencing. Genetic analysis of theNPHS1gene revealed one compound heterozygous variant p.Glu117Lys, one heterozygous missense mutation p.Asp310Asn, and one heterozygous frame-shifting mutation (c.3250_3251insG causing p.Val1084Glyfs⁎12) 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.
authors.affiliation: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
authors.forename: Thi Kim Lien
authors.initials: TK
authors.lastname: Nguyen
authors.affiliation: Faculty of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam.
authors.forename: Van Dem
authors.initials: VD
authors.lastname: Pham
authors.affiliation: Vietnam National Hospital of Pediatrics, Hanoi, Vietnam.
authors.forename: Thu Huong
authors.initials: TH
authors.lastname: Nguyen
authors.affiliation: Faculty of Medicine and Pharmacy, Vietnam National University, Hanoi, Vietnam.
authors.forename: Trung Kien
authors.initials: TK
authors.lastname: Pham
authors.affiliation: Hanoi Medical University, Hanoi, Vietnam.
authors.forename: Thi Quynh Huong
authors.initials: TQ
authors.lastname: Nguyen
authors.affiliation: Institute of Genome Research, Vietnam Academy of Science and Technology, Hanoi, Vietnam.
authors.forename: Huy Hoang
authors.identifier: 0000-0002-7524-0717
authors.initials: HH
authors.lastname: Nguyen