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Article

A novel large deletion of the ICR1 region including H19 and putative enhancer elements.

BMC medical genetics - 6 May 2015

Fryssira Helen, Amenta Stella, Kanber Deniz, Sofocleous Christalena, Lykopoulou Evangelia, Kanaka-Gantenbein Christina, Cerrato Flavia, Lüdecke Hermann-Josef, Bens Susanne, Riccio Andrea, Buiting Karin

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the imprinting control region 1 (ICR1) at the IGF2/H19 locus resulting in biallelic expression of IGF2 and biallelic silencing of H19 account for approximately 10% of patients with BWS. The majority...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 25943194
DOI: 10.1186/s12881-015-0173-2
PMCID: PMC4630834

Genes

IGF2
CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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