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. 2004 Sep;36(9):958-60.
doi: 10.1038/ng1410. Epub 2004 Aug 15.

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Angela Sparago  1 , Flavia Cerrato, Maria Vernucci, Giovanni Battista Ferrero, Margherita Cirillo Silengo, Andrea Riccio
Affiliations

Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome

Angela Sparago et al. Nat Genet. 2004 Sep.

Abstract

The overgrowth- and tumor-associated Beckwith-Wiedemann syndrome results from dysregulation of imprinted genes on chromosome 11p15.5. Here we show that inherited microdeletions in the H19 differentially methylated region (DMR) that abolish two CTCF target sites cause this disease. Maternal transmission of the deletions results in hypermethylation of the H19 DMR, biallelic IGF2 expression, H19 silencing and Beckwith-Wiedemann syndrome, indicative of loss of function of the IGF2-H19 imprinting control element.

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