Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes

Am J Hum Genet. 2006 Aug;79(2):332-41. doi: 10.1086/506371. Epub 2006 Jun 23.


Genomic imbalance is a common cause of phenotypic abnormalities. We measured the relative expression level of genes that map within the microdeletion that causes Williams-Beuren syndrome and within its flanking regions. We found, unexpectedly, that not only hemizygous genes but also normal-copy neighboring genes show decreased relative levels of expression. Our results suggest that not only the aneuploid genes but also the flanking genes that map several megabases away from a genomic rearrangement should be considered possible contributors to the phenotypic variation in genomic disorders.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line, Transformed
  • Cells, Cultured
  • Chromosomes, Human, Pair 7 / genetics*
  • Gene Deletion*
  • Gene Expression*
  • Humans
  • Williams Syndrome / genetics*