Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type

Kidney Int. 2000 Feb;57(2):401-4. doi: 10.1046/j.1523-1755.2000.00859.x.


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.

Conclusion: Our findings indicate that an abnormality of nephrin may cause CNS of the Finnish type in Japanese subjects.

Publication types

  • Case Reports

MeSH terms

  • Asian Continental Ancestry Group / genetics
  • DNA Mutational Analysis
  • Family Health
  • Finland
  • Humans
  • Infant
  • Japan
  • Kidney Glomerulus / chemistry
  • Male
  • Membrane Proteins
  • Nephrotic Syndrome / congenital*
  • Nephrotic Syndrome / genetics*
  • Nuclear Family
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proteins / genetics*


  • Membrane Proteins
  • Proteins
  • nephrin