title: Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes.
abstract: 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.
authors.affiliation: Center for Integrative Genomics, Genopode Building, University of Lausanne, Lausanne, Switzerland.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Merla
authors.forename: Cédric
authors.initials: C
authors.lastname: Howald
authors.forename: Charlotte N
authors.initials: CN
authors.lastname: Henrichsen
authors.forename: Robert
authors.initials: R
authors.lastname: Lyle
authors.forename: Carine
authors.initials: C
authors.lastname: Wyss
authors.forename: Marie-Thérèse
authors.initials: MT
authors.lastname: Zabot
authors.forename: Stylianos E
authors.initials: SE
authors.lastname: Antonarakis
authors.forename: Alexandre
authors.initials: A
authors.lastname: Reymond
mesh_terms: D002461:Cell Line, Transformed; D002478:Cells, Cultured; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D017353:Gene Deletion; D015870:Gene Expression; D006801:Humans; D018980:Williams Syndrome / Q000235:genetics*