Disruption of insulin-like growth factor 2 imprinting in Beckwith-Wiedemann syndrome

Nat Genet. 1993 Oct;5(2):143-50. doi: 10.1038/ng1093-143.


To study insulin-like growth factor 2 (IGF2) imprinting in BWS (Beckwith-Wiedemann syndrome, an overgrowth syndrome associated with Wilms and other embryonal tumours), we examined allele-specific expression using an Apal polymorphism in the 3' untranslated region of IGF2. Four of six BWS fibroblast strains demonstrated biallelic expression, as did the tongue tissue from one of these patients. Paternal heterodisomy was excluded for all BWS patients with biallelic expression, suggesting strongly that the BWS phenotype in some patients involves disruption of IGF2 imprinting. Constitutional loss of IGF2 imprinting in a subgroup of our BWS patients, and recent reports of loss of imprinting in sporadic Wilms tumour, further strengthens the view that IGF2 overexpression plays an important role in somatic overgrowth and the development of embryonal tumours.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Beckwith-Wiedemann Syndrome / genetics*
  • Cell Line
  • Child
  • DNA
  • Female
  • Gene Expression Regulation
  • Heterozygote
  • Humans
  • Insulin-Like Growth Factor II / genetics*
  • Lymphocytes / metabolism
  • Male


  • Insulin-Like Growth Factor II
  • DNA