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Cellular and Molecular Life Sciences

, Volume 66, Issue 7, pp 1178–1197 | Cite as

The genomic basis of the Williams – Beuren syndrome

  • C. SchubertEmail author
Open Access
Review

Abstract.

The Williams-Beuren syndrome is a genomic disorder (prevalence: 1/7,500 to 1/20,000), caused by a hemizygous contiguous gene deletion on chromosome 7q11.23. Typical symptoms comprise supravalvular aortic stenosis, mental retardation, overfriendliness and visuospatial impairment. The common deletion sizes range of 1.5–1.8 mega base pairs (Mb), encompassing app. 28 genes. For a few genes, a genotype-phenotype correlation has been established. The best-explored gene within this region is the elastin gene; its haploinsufficiency causes arterial stenosis. The region of the Williams-Beuren syndrome consists of a single copy gene region (~1.2 Mb) flanked by repetitive sequences – Low Copy Repeats (LCR). The deletions arise as a consequence of misalignment of these repetitive sequences during meiosis and a following unequal crossing over due to high similarity of LCRs. This review presents an overview of the Williams-Beuren syndrome region considering the genomic assembly, chromosomal rearrangements and their mechanisms (i.e. deletions, duplications, inversions) and evolutionary and historical aspects.

Keywords.

Williams-Beuren syndrome non-allelic homologous recombination deletion duplication 7q11.23 elastin gene supravalvular aortic stenosis LCR 

Copyright information

© Birkhäuser Verlag, Basel 2008

Authors and Affiliations

  1. 1.Institute of Human GeneticsGeorg-August-University of GoettingenGoettingenGermany

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