Journal article
New insights into the pathogenesis of beckwith-wiedemann and silver-russell syndromes: Contribution of small copy number variations to 11p15 imprinting defects
J Demars, S Rossignol, I Netchine, KS Lee, M Shmela, L Faivre, J Weill, S Odent, S Azzi, P Callier, J Lucas, C Dubourg, J Andrieux, YL Bouc, A El-Osta, C Gicquel
Human Mutation | WILEY-BLACKWELL | Published : 2011
DOI: 10.1002/humu.21558
Abstract
The imprinted 11p15 region is organized in two domains, each of them under the control of its own imprinting control region (ICR1 for the IGF2/H19 domain and ICR2 for the KCNQ1OT1/CDKN1C domain). Disruption of 11p15 imprinting results in two fetal growth disorders with opposite phenotypes: the Beckwith-Wiedemann (BWS) and the Silver-Russell (SRS) syndromes. Various 11p15 genetic and epigenetic defects have been demonstrated in BWS and SRS. Among them, isolated DNA methylation defects account for approximately 60% of patients. To investigate whether cryptic copy number variations (CNVs) involving only part of one of the two imprinted domains account for 11p15 isolated DNA methylation defects,..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
Contract grant sponsors: National Health and Medical Research Council of Australia (472637); The Baker IDI Heart and Diabetes Institute; The Victorian Government's OIS Program; The Institut National de la Sante et de la Recherche Medicale UMPC U938; Universite Pierre et Marie Curie Paris 6; Assistance Publique Hopitaux de Paris.