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

Giuseppe Merla, Cédric Howald, Charlotte N. Henrichsen, Robert Lyle, Carine Wyss, M. T. Zabot, Stylianos E. Antonarakis, Alexandre Reymond

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)332-341
Number of pages10
JournalAmerican Journal of Human Genetics
Volume79
Issue number2
DOIs
Publication statusPublished - Aug 2006

ASJC Scopus subject areas

  • Genetics

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