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

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

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 hypothesi...

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Bibliographic Details
Main Authors: Vinod Dagar, Wendy Hutchison, Andrea Muscat, Anita Krishnan, David Hoke, Ashley Buckle, Priscillia Siswara, David J. Amor, Jeffrey Mann, Jason Pinner, Alison Colley, Meredith Wilson, Rani Sachdev, George McGillivray, Matthew Edwards, Edwin Kirk, Felicity Collins, Kristi Jones, Juliet Taylor, Ian Hayes, Elizabeth Thompson, Christopher Barnett, Eric Haan, Mary-Louise Freckmann, Anne Turner, Susan White, Ben Kamien, Alan Ma, Fiona Mackenzie, Gareth Baynam, Cathy Kiraly-Borri, Michael Field, Tracey Dudding-Byth, Elizabeth M. Algar
Format: Article
Language:English
Published: BMC 2018-08-01
Series:Clinical Epigenetics
Subjects:
DNA methyltransferase 1
Beckwith-Wiedemann syndrome
One-carbon pathway
Methylation
Online Access:http://link.springer.com/article/10.1186/s13148-018-0546-4

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http://link.springer.com/article/10.1186/s13148-018-0546-4

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