Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.

@article{Riccio2009InheritedAS,
  title={Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.},
  author={Andrea Riccio and Angela Sparago and Gaetano Verde and Agostina De Crescenzo and Valentina Citro and Maria Vittoria Cubellis and Giovanni Battista Ferrero and Margherita Cirillo Silengo and Silvia Russo and L Larizza and Flavia Cerrato},
  journal={Endocrine development},
  year={2009},
  volume={14},
  pages={1-9}
}
The parent-of-origin-dependent expression of IGF2 and H19 is controlled by the imprinting center 1 (IC1) consisting of a methylation-sensitive chromatin insulator. IC1 is normally methylated on the paternal chromosome and nonmethylated on the maternal chromosome. We found that 22 cases in a large cohort of patients affected by Beckwith-Wiedemann syndrome (BWS) had IC1 methylated on both parental chromosomes, resulting in biallelic activation of IGF2 and biallelic silencing of H19. These… CONTINUE READING
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