WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour

Nature. 1991 Oct 3;353(6343):431-4. doi: 10.1038/353431a0.


Wilms' tumour (WT), aniridia, genitourinary abnormalities and mental retardation form a symptom group (WAGR syndrome) associated with hemizygous deletions of DNA in chromosome band 11p13 (refs 1,2). However, it has not been clear whether hemizygosity at a single locus contributes to more than one phenotype. The tumour suppressor gene for Wilms' tumour, WT1, has been characterized: it is expressed at high levels in the glomeruli of the kidney, as well as the gonadal ridge of the developing gonad, the Sertoli cells of the testis and the epithelial and granulosa cells of the ovary, suggesting a developmental role in the genital system in addition to the kidney. We now report constitutional mutations within the WT1 genes of two individuals with a combination of WT and genital abnormalities as evidence of a role for a recessive oncogene in mammalian development.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Amino Acid Sequence
  • Base Sequence
  • Chromosome Deletion
  • Exons / genetics
  • Genes, Wilms Tumor / genetics*
  • Genitalia, Male / abnormalities*
  • Humans
  • Kidney Neoplasms / complications
  • Kidney Neoplasms / genetics*
  • Male
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Wilms Tumor / complications
  • Wilms Tumor / genetics*

Associated data

  • GENBANK/S55588
  • GENBANK/S55593
  • GENBANK/X57450
  • GENBANK/X57451
  • GENBANK/X57452
  • GENBANK/X57453
  • GENBANK/X57454
  • GENBANK/X57455
  • GENBANK/X57688
  • GENBANK/X57689