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1: Am J Hum Genet. 2006 Aug;79(2):332-41. Epub 2006 Jun 23.Click here to read Click here to read Links

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

Merla G, Howald C, Henrichsen CN, Lyle R, Wyss C, Zabot MT, Antonarakis SE, Reymond A.

Center for Integrative Genomics, Genopode Building, University of Lausanne, Lausanne, Switzerland.

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.

PMID: 16826523 [PubMed - indexed for MEDLINE]

PMCID: PMC1559497