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Article

Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.

European journal of human genetics : EJHG - 1 Feb 2012

Poole Rebecca L, Leith Donald J, Docherty Louise E, Shmela Mansur E, Gicquel Christine, Splitt Miranda, Temple I Karen, Mackay Deborah J G

Abstract excerpt

The imprinted expression of the IGF2 and H19 genes is controlled by the imprinting control region 1 (ICR1) located at chromosome 11p15.5. DNA methylation defects involving ICR1 result in two growth disorders with opposite phenotypes: an overgrowth disorder, the Beckwith-Wiedemann syndrome (maternal ICR1 hypermethylation in 10% of BWS cases) and a growth retardation disorder, the Silver-Russell syndrome (paternal...

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Identifiers

PMID: 21863054
DOI: 10.1038/ejhg.2011.166
PMCID: PMC3260935

Genes

IGF2
CTCF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Beckwith-Wiedemann syndrome caused by maternally inherited mutation of an OCT-binding motif in the IGF2/H19-imprinting control region, ICR1.PMID 21863054Read ↗

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