Figure 3.

Most of CdLS are caused by mutations in cohesin and cohesin-regulatory genes. These mutations cause alterations in many fundamental biological processes such as transcription, DNA repair and translation, leading to gene expression dysregulation, high levels of oxidative stress and genome instability. A few cases are instead due to mutations in genes coding transcription machinery members or involved in chromatin remodelling and histone modification, which in turn cause gene changes.