Slow progressive FSGS associated with an F392L WT1 mutation

Pediatr Nephrol. 2004 Mar;19(3):353-6. doi: 10.1007/s00467-003-1372-1. Epub 2004 Jan 27.

Abstract

Constitutional missense mutations in the WT1 gene are usually associated with the Denys-Drash syndrome, characterized by a rapid progressive nephropathy, male pseudohermaphroditism, and an increased risk for Wilms tumor. We report here a patient with scrotal hypospadias and a slow progressive nephropathy due to focal and segmental glomerulosclerosis. WT1 mutation analysis revealed a constitutional missense mutation in exon 9 resulting in an exchange F392L. This mutation has previously been reported by others in a patient with a similar mild course of nephropathy. In contrast, a mutation in the corresponding codon of exon 8 (F364L) was previously found by us in a patient with a very rapid progression to end-stage renal disease. Whether the position of a mutation may influence the course of the nephropathy must be evaluated in a larger patient cohort. The individual tumor risk for this alteration cannot be given at present because neither of the two patients has shown evidence of a Wilms tumor or a gonadoblastoma to date.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Child
  • Denys-Drash Syndrome / genetics*
  • Denys-Drash Syndrome / physiopathology*
  • Disease Progression
  • Humans
  • Male
  • Molecular Sequence Data
  • Point Mutation*
  • Protein Structure, Tertiary
  • WT1 Proteins / chemistry
  • WT1 Proteins / genetics*

Substances

  • WT1 Proteins