Abstract
Cornelia de Lange Syndrome (CdLS) is a multisystem disorder caused by germline mutations in cohesin subunit genes. Cohesin genes have important non-overlapping roles in cell division and gene expression. CdLS is likely caused by interplay of both the cell division and gene expression roles; however, their individual contribution is not understood.
Our aim was to investigate cell division and gene expression in cohesin deficiency to better understand the molecular pathology of CdLS.