title: Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
abstract: BACKGROUND
  Congenital nephrotic syndrome (CNS) of the Finnish type is a rare autosomal-recessive disorder. Kestila et al reported that a positionally cloned gene for a novel glomerular protein nephrin is mutated in CNS. Most Finnish patients have one of two mutations. In this study, we described a Japanese CNS family associated with a novel missense point mutation in the nephrin gene.
  
  
  METHODS
  Reverse transcription-polymerase chain reaction, polymerase chain reaction, and sequence analysis were used.
  
  
  RESULTS
  The patient had the three missense mutations homozygously. One mutation was already reported as sequence variant. The two other novel mutations were the GAG to AAG transition, leading to a Glu447Lys and the GAC to GTC transition, predicting an Asp819Val substitution in the nephrin protein.
  
  
  CONCLUSIONS
  Our findings indicate that an abnormality of nephrin may cause CNS of the Finnish type in Japanese subjects.
authors.affiliation: Department of Pediatrics, Okayama University Medical School, Okayama, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Aya
authors.forename: H
authors.initials: H
authors.lastname: Tanaka
authors.forename: Y
authors.initials: Y
authors.lastname: Seino
mesh_terms: D044466:Asian People / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005387:Finland; D006801:Humans; D007223:Infant; D007564:Japan; D007678:Kidney Glomerulus / Q000737:chemistry; D008297:Male; D008565:Membrane Proteins; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000235:genetics*; D009679:Nuclear Family; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D011506:Proteins; C113267:nephrin