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Article

Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome.

Clinical epigenetics - 30 Aug 2018

Dagar Vinod, Hutchison Wendy, Muscat Andrea, Krishnan Anita, Hoke David, Buckle Ashley, Siswara Priscillia, Amor David J, Mann Jeffrey, Pinner Jason, Colley Alison, Wilson Meredith, Sachdev Rani, McGillivray George, Edwards Matthew, Kirk Edwin, Collins Felicity, Jones Kristi, Taylor Juliet, Hayes Ian, Thompson Elizabeth, Barnett Christopher, Haan Eric, Freckmann Mary-Louise, Turner Anne, White Susan, Kamien Ben, Ma Alan, Mackenzie Fiona, Baynam Gareth, Kiraly-Borri Cathy, Field Michael, Dudding-Byth Tracey, Algar Elizabeth M

Abstract excerpt

BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is an imprinting disorder with a population frequency of approximately 1 in 10,000. The most common epigenetic defect in BWS is a loss of methylation (LOM) at the 11p15.5 imprinting centre, KCNQ1OT1 TSS-DMR, and affects 50% of cases. We hypothesised that genetic factors linked to folate metabolism may play a role in BWS predisposition via effects on methylation...

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Identifiers

PMID: 30165906
DOI: 10.1186/s13148-018-0546-4
PMCID: PMC6117921

Genes

DNMT1
MTHFR
CBS
MTR
MTRR

Variants

rs138841970

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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