A novel WT1 gene mutation in a newborn infant diagnosed with Denys-Drash syndrome

Genet Couns. 2012;23(2):255-61.


Denys-Drash syndrome (DDS) is a rare disorder characterized by glomerulopathy, genital abnormalities and predisposition to Wilms' tumor. It is associated with constitutional Wilms'tumor suppressor 1 (WT1) gene mutations, in which the majority being missense mutations in the zinc-finger region. Here, we present a newborn with DDS, associated with a novel heterozygous missense mutation, p.Asp396His, on exon 9 of WT1.

Publication types

  • Case Reports

MeSH terms

  • Denys-Drash Syndrome / genetics*
  • Genes, Wilms Tumor*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense / genetics*
  • WT1 Proteins / genetics*


  • WT1 Proteins