Article
Inherited and Sporadic Epimutations at the IGF2-H19 locus in Beckwith-Wiedemann syndrome and Wilms' tumor.
Endocrine development - 1 Jan 2009
Riccio Andrea, Sparago Angela, Verde Gaetano, De Crescenzo Agostina, Citro Valentina, Cubellis Maria Vittoria, Ferrero Giovanni Battista, Silengo Margherita Cirillo, Russo Silvia, Larizza Lidia, Cerrato Flavia
Abstract excerpt
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,...
Topics
- Beckwith-Wiedemann Syndrome
- DNA Methylation
- Epigenesis, Genetic
- Humans
- Insulin-Like Growth Factor II
- Kidney Neoplasms
- Mutation
- Wilms Tumor