WT1 gene mutations in three girls with nephrotic syndrome

Eur J Pediatr. 2008 May;167(5):579-81. doi: 10.1007/s00431-007-0514-z. Epub 2007 Jun 1.


Denys-Drash syndrome and Frasier syndrome are two related conditions caused by mutations of the Wilms tumor gene, WT1. Both syndromes are characterized by male pseudohermaphrodism, a progressive glomerulopathy, and the development of genitourinary tumors. This study examines three girls with steroid-resistant nephrotic syndrome related to mutations in the WT1 gene, but with normal 46, XX karyotype and normal female phenotype. WT1 mutation analysis should be routinely done in females with steroid-resistant nephrotic syndrome.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Child, Preschool
  • DNA / genetics*
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Genes, Wilms Tumor / physiology*
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Mutation*
  • Nephrotic Syndrome / diagnosis
  • Nephrotic Syndrome / genetics*


  • DNA