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Molecular Findings in Beckwith–Wiedemann Syndrome



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    • Sanaa Choufani, Ph.D. is a Research Associate in the Genetics and Genome Biology program, Research Institute of the Hospital for Sick Children. Her research focuses on the epigenetic basis of human growth dyregulation.

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    • Cheryl Shuman, M.S., CGC is Program Director of the M.Sc. Program in Genetic Counselling at the University of Toronto and Director, Genetic Counselling at SickKids. She holds a Project Investigator appointment in the Research Institute at SickKids based on her involvement in clinical research (genotype/phenotype correlations in overgrowth syndromes with cancer predisposition, most specifically Beckwith–Wiedemann syndrome) and in research related to the provision of genetic counselling.

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    • Correspondence to: Dr. Rosanna Weksberg, M.D., Ph.D., Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada M5G 1X8. E-mail:

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    • Rosanna Weksberg, M.D., Ph.D. is a Professor of Pediatrics and Medical Genetics at the Hospital for Sick Children and the University of Toronto. Rosanna Weksberg has worked on human imprinting disorders and growth-related conditions since 1995, and has published extensively in this area. Dr. Weksberg's current research focuses on the epigenetic basis of normal human development and the identification of epigenetic alterations associated with human disease, especially in growth-related disorders. An important complementary research focus of the laboratory involves the characterization of the effects of both genetic variation and environmental exposures (including therapeutic agents) on epigenotype. Dr. Weksberg is funded by CIHR and NSERC. She is Associate Editor for the American Journal of Medical Genetics and an Editor for Frontiers in Epigenomics.

  • Disclosure of Potential Conflicts of Interest: nothing to declare.


Our understanding of Beckwith–Wiedemann syndrome (BWS) has recently been enhanced by advances in its molecular characterization. These advances have further delineated intricate (epi)genetic regulation of the imprinted gene cluster on chromosome 11p15.5 and the role of these genes in normal growth and development. Studies of the molecular changes associated with the BWS phenotype have been instrumental in elucidating critical molecular elements in this imprinted region. This review will provide updated information on the multiple new regulatory elements that have been recently found to contribute to in cis or in trans control of imprinted gene expression in the chromosome 11p15.5 region and the clinical expression of the BWS phenotype. © 2013 Wiley Periodicals, Inc.