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Williams-Beuren Syndrome

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Genomic Disorders

Abstract

Williams-Beuren syndrome (WBS; also called Williams syndrome) is a multisystem developmental disorder that is almost always associated with an approx 1.5-Mb deletion of chromosome 7q11.23 (OMIM no. 194050). The deletion was identified in 1993 based on the observation of phenotypic overlap with supravalvular aortic stenosis (SVAS), a distinct autosomal dominant disorder affecting the cardiovascular system (1). It has since been shown that SVAS arises because of the disruption of one copy of the elastin gene, through either deletion, translocation or point mutation (2–4), but the genes contributing to the remaining aspects of WBS have not yet been definitively determined.

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Authors and Affiliations

  1. Program in Genetics & Genomic Biology, Sick Kids Hospital, Toronto, Canada

    Stephen W. Scherer PhD

  2. Department of Molecular & Medical Genetics, University of Toronto, Toronto, Canada

    Stephen W. Scherer PhD

  3. Departments of Medicine and Molecular & Medical Genetics, University of Toronto, Toronto, Canada

    Lucy R. Osborne PhD

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  1. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX

    James R. Lupski MD, PhD  & Pawel Stankiewicz MD, PhD  & 

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Scherer, S.W., Osborne, L.R. (2006). Williams-Beuren Syndrome. In: Lupski, J.R., Stankiewicz, P. (eds) Genomic Disorders. Humana Press. https://doi.org/10.1007/978-1-59745-039-3_15

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