Constitutional relaxation of insulin-like growth factor II gene imprinting associated with Wilms' tumour and gigantism

Nat Genet. 1993 Dec;5(4):408-12. doi: 10.1038/ng1293-408.


We have examined the imprinting of the insulin-like growth factor II gene (IGF2) in ten normal kidney samples from children with renal embryonal neoplasms. In kidney samples from nine children with normal growth profiles, IGF2 mRNA was transcribed monoallelically, consistent with normal imprinting of the gene. But in one child who had generalized somatic overgrowth, IGF2 was transcribed from both alleles in her kidney, peripheral blood leukocytes and Wilms' tumour. These findings suggest that a defect in genomic imprinting can occur constitutionally, leading to growth abnormalities and predisposition to Wilms' tumour.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Genes, Wilms Tumor*
  • Gigantism / genetics*
  • Humans
  • Insulin-Like Growth Factor II / genetics
  • Insulin-Like Growth Factor II / metabolism*
  • Kidney Neoplasms / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic
  • RNA, Messenger / metabolism


  • RNA, Messenger
  • Insulin-Like Growth Factor II