Journal article
Genetic variation affecting DNA methylation and the human imprinting disorder, Beckwith-Wiedemann syndrome
V Dagar, W Hutchison, A Muscat, A Krishnan, D Hoke, A Buckle, P Siswara, DJ Amor, J Mann, J Pinner, A Colley, M Wilson, R Sachdev, G McGillivray, M Edwards, E Kirk, F Collins, K Jones, J Taylor, I Hayes Show all
Clinical Epigenetics | BMC | Published : 2018
Abstract
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 maintenance at KCNQ1OT1 TSS-DMR. Results: Single nucleotide variants (SNVs) in the folate pathway affecting methylenetetrahydrofolate reductase (MTHFR), methionine synthase reductase (MTRR), 5-methyltetrahydrofolate-homocysteine S-methyltransferase (MTR), cystathionine beta-synthase (CBS) ..
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Funding Acknowledgements
This study was funded by the David Danks Post Graduate Scholarship (University of Melbourne) and the Children's Cancer Foundation (Murdoch Children's Research Institute). The funding bodies had no role in the design of the study, collection, analysis, interpretation of data, or in writing the manuscript.