作者
Louise Tee, Derek HK Lim, Renuka P Dias, Marie-Odile Baudement, Amy A Slater, Gail Kirby, Tom Hancocks, Helen Stewart, Carol Hardy, Fiona Macdonald, Eamonn R Maher
发表日期
2013/12
期刊
Clinical epigenetics
卷号
5
页码范围
1-10
出版商
BioMed Central
简介
Background
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder associated with abnormalities in 11p15.5 imprinted genes. The most common cause is loss of methylation (epimutation) at the imprinting control centre 2 (IC2/KvDMR1). Most IC2 epimutations occur sporadically but an association with conception after assisted reproductive technologies (ART) has been reported. A subgroup of IC2 epimutation cases also harbour epimutations at other imprinting centres (ICs) outside of 11p15.5. We have investigated the relationship between these multiple epimutation cases (ME+), history of ART and clinical phenotype in a cohort of 187 BWS IC2 epimutation patients.
Results
Methylation analysis at PLAGL1, MEST and IGF2R ICs demonstrated an over-representation of patients with abnormally low methylation (8.5%, 12% and 6 …
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L Tee, DHK Lim, RP Dias, MO Baudement, AA Slater… - Clinical epigenetics, 2013