title: Congenital nephrotic syndrome with a novel NPHS1 mutation.
abstract: Congenital nephrotic syndrome of the Finnish type (CNF) is a rare autosomal recessive disorder. The incidence of CNF is relatively high in Finland but considerably lower in other countries. We encountered a male newborn with CNF, associated with compound heterozygous mutations in nephrosis 1, congenital, Finnish type (NPHS1). The patient was admitted to hospital as a preterm infant. Physical and laboratory findings fulfilled the diagnostic criteria of nephrotic syndrome, and were compatible with a diagnosis of CNF, but there was no family history of the disease. On genetic analysis of NPHS1 a paternally derived heterozygous frame-shift mutation caused by an 8 bp deletion, resulting in a stop codon in exon 16 (c.2156-2163 delTGCACTGC causing p.L719DfsX4), and a novel, maternally derived nonsense mutation in exon 15 (c.1978G>T causing p.E660X) were identified. Early genetic diagnosis of CNF is important for proper clinical management and appropriate genetic counseling.
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.|Department of Pediatrics, Gunma Central Hospital, Maebashi, Japan.
authors.forename: Chikage
authors.initials: C
authors.lastname: Yoshizawa
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.|Bristol Renal, University of Bristol, Bristol, UK.
authors.forename: Yasuko
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.|Department of Pediatrics, Gunma Central Hospital, Maebashi, Japan.
authors.forename: Yuka
authors.initials: Y
authors.lastname: Ikeuchi
authors.affiliation: Department of Pediatrics, Gunma Central Hospital, Maebashi, Japan.
authors.forename: Masahiko
authors.initials: M
authors.lastname: Tashiro
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.|Department of Pediatrics, Gunma Central Hospital, Maebashi, Japan.
authors.forename: Satoko
authors.initials: S
authors.lastname: Kakegawa
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Watanabe
authors.affiliation: Department of Pediatrics, Nagoya Daini Red Cross Hospital, Nagoya, Japan.
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Goto
authors.affiliation: Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Nakanishi
authors.affiliation: Department of Pediatrics, Wakayama Medical University, Wakayama, Japan.|Center for Clinical Research and Development National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Norishige
authors.initials: N
authors.lastname: Yoshikawa
authors.affiliation: Department of Pediatrics, Gunma University School of Medicine, Maebashi, Japan.
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Arakawa
mesh_terms: D004252:DNA Mutational Analysis; D005820:Genetic Testing; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital / Q000235:genetics* / Q000378:metabolism; D016133:Polymerase Chain Reaction
chemical_list: D008565:Membrane Proteins; C113267:nephrin
keywords: 
  NPHS1
  ; Finnish type; congenital nephrotic syndrome