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

Nature Genetics volume 5, pages 143–150 (1993)Cite this article

Abstract

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.

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Author information

Authors and Affiliations

  1. Department of Genetics, Hospital for Sick Children,

    Rosanna Weksberg, Yan Ling Fei & Qian Li Song

  2. University of Toronto, Toronto, M5G 1X8, Canada

    Rosanna Weksberg, Yan Ling Fei & Qian Li Song

  3. Department of Pathology, Hospital for Sick Children,

    Ding Ren Shen & Jeremy Squire

  4. University of Toronto, Toronto, M5G 1X8, Canada

    Ding Ren Shen & Jeremy Squire

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Weksberg, R., Ren Shen, D., Ling Fei, Y. et al. Disruption of insulin–like growth factor 2 imprinting in Beckwith–Wiedemann syndrome. Nat Genet 5, 143–150 (1993). https://doi.org/10.1038/ng1093-143

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