Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.

@article{Brown1996ImprintingMI,
  title={Imprinting mutation in the Beckwith-Wiedemann syndrome leads to biallelic IGF2 expression through an H19-independent pathway.},
  author={Keith William Brown and Angela J. Villar and W. Bickmore and Jill Clayton-Smith and Daniel R. Catchpoole and Eamonn R Maher and Wolf Reik},
  journal={Human molecular genetics},
  year={1996},
  volume={5 12},
  pages={2027-32}
}
The Beckwith-Wiedemann syndrome (BWS) is genetically linked to chromosome 11p15.5, and a variety of observations suggest that deregulation of imprinted genes in this region is causally involved in the pathogenesis of the disease. It has been shown that in some patients without cytogenetic abnormalities the otherwise repressed maternal copy of the insulin-like growth factor 2 (IGF2) gene is expressed, leading to biallelic expression of IGF2. In some of these cases, this is accompanied by… CONTINUE READING

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