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Article

Evidence for anticipation in Beckwith-Wiedemann syndrome.

European journal of human genetics : EJHG - 1 Dec 2013

Berland Siren, Appelbäck Mia, Bruland Ove, Beygo Jasmin, Buiting Karin, Mackay Deborah J G, Karen Temple I, Houge Gunnar

Abstract excerpt

Classical Beckwith-Wiedemann syndrome (BWS) was diagnosed in two sisters and their male cousin. The children's mothers and a third sister were tall statured (178, 185 and 187 cm) and one had mild BWS features as a child. Their parents had average heights of 173 cm (mother) and 180 cm (father). This second generation tall stature and third generation BWS correlated with increased methylation of the maternal...

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Topics

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Share to Beckwith-Wiedemann Syndrome
Share to Chromosomes, Human, Pair 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Methylation

Share to Genomic Imprinting

Share to Genomic Structural Variation

Share to Insulin-Like Growth Factor II

Share to Octamer Transcription Factor-3

Share to RNA, Long Noncoding

Source

Open in PubMed Open full text

Identifiers

PMID: 23572028
DOI: 10.1038/ejhg.2013.71
PMCID: PMC3831082

Genes

CTCF
IGF2

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.

Related research

Semantic proximity does not establish scientific evidence.

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Evidence for anticipation in Beckwith-Wiedemann syndrome.PMID 23572028Read ↗

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

Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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Identification of responsible sequences which mutations cause maternal H19-ICR hypermethylation with Beckwith-Wiedemann syndrome-like overgrowth.Semantic proximity Read ↗

Molecular Findings in Beckwith–Wiedemann SyndromeSemantic proximity Read ↗

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Oct motif variants in Beckwith-Wiedemann syndrome patients disrupt maintenance of the hypomethylated state of the H19/IGF2 imprinting control region.Semantic proximity Read ↗

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