A clinical overview of WT1 gene mutations

Hum Mutat. 1997;9(3):209-25. doi: 10.1002/(SICI)1098-1004(1997)9:3<209::AID-HUMU2>3.0.CO;2-2.


Mutations in the WT1 gene were anticipated to explain the genetic basis of the childhood kidney cancer, Wilms tumour (WT). Six years on, we review 100 reports of intragenic WT1 mutations and examine the accompanying clinical phenotypes. While only 5% of sporadic Wilms' tumours have intragenic WT1 mutations, > 90% of patients with the Denys-Drash syndrome (renal nephropathy, gonadal anomaly, predisposition to WT) carry constitutional intragenic WT1 mutations. WT1 mutations have also been reported in juvenile granulosa cell tumour, non-asbestos related mesothelioma, desmoplastic small round cell tumour and, most recently, acute myeloid leukemia.

Publication types

  • Review

MeSH terms

  • Alleles
  • Beckwith-Wiedemann Syndrome / genetics
  • Chromosome Deletion
  • Chromosomes, Human, Pair 11
  • Cryptorchidism / genetics
  • Disorders of Sex Development / genetics
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genes, Tumor Suppressor
  • Genes, Wilms Tumor*
  • Humans
  • Intellectual Disability / genetics
  • Kidney Neoplasms / genetics*
  • Male
  • Mutation*
  • Neoplasms / genetics
  • Nephrotic Syndrome / genetics
  • WAGR Syndrome / genetics*
  • X Chromosome