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Article

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

Nature genetics - 1 Sept 2004

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

Abstract excerpt

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 transm...

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Source

Identifiers

PMID: 15314640
DOI: 10.1038/ng1410

Genes

IGF2
CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15314640-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome.PMID 15314640Read ↗

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Loss of imprinting mutations define both distinct and overlapping roles for misexpression of IGF2 and of H19 lncRNA.Semantic proximity Read ↗

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