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Cornelia de Lange Syndrome (CdLS) is a rare genetic developmental disorder with characteristic morphological anomalies, cardiac defects, growth retardation and cognitive delay. All mutations identified so far affect five genes coding for structural or regulatory components of cohesin. This DNA-bound complex functions in chromatin-related processes as diverse as chromosome segregation, DNA damage repair, transcription control and chromatin structure. To date mutations in these five genes account for only ~60% of patients with CdLS and the underlying pathobiological mechanisms remain largely unknown.

The EU-funded TARGET-CdLS project aims to close these gaps by identifying novel causes of CdLS and mechanistic defects caused by these mutations using NGS techniques (e.g. exome sequencing), functional (4C, ChIP-sequencing) and proteomics approaches. The collected information will help to explain the correlation between genotype and phenotype of patients and improve diagnosis and prognosis of patients with CdLS.