Molecular findings in Beckwith–Wiedemann syndrome

S Choufani, C Shuman… - American Journal of …, 2013 - Wiley Online Library
S Choufani, C Shuman, R Weksberg
American Journal of Medical Genetics Part C: Seminars in Medical …, 2013Wiley Online Library
Abstract 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 …
Abstract
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.
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