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Human Molecular Genetics, 1999, Vol. 8, No. 10 1947-1954
© 1999 Oxford University Press

Review

Williams–Beuren syndrome:genes and mechanisms

Uta Franckea

Howard Hughes Medical Institute and Department of Genetics,Stanford University School of Medicine, Stanford, CA 94305-5323,USA

ABSTRACT

Williams–Beuren syndrome (WBS; OMIM 194050)is caused by heterozygous deletions of ~1.6 Mb of chromosomal sub-band7q11.23. The deletions are rather uniform in size as they arisespontaneously by inter- or intrachromosomal crossover events withinmisaligned duplicated regions of high sequence identity that flank thetypical deletion. This review will discuss the status of the molecularcharacterization of the deletion and flanking regions, the genesidentified in the deletion region and their possible roles in generatingthe complex multi-system clinical phenotype.

FOOTNOTES

a Tel: +1650 725 8089; Fax: +1 650 725 8112; Email: francke{at}cmgm.stanford.edu


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