Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Cornelia de Lange syndrome (CdLS) is a rare disease characterized by facial dysmorphism, pre- and postnatal growth retardation, cognitive impairment, gastrointestinal malformations, congenital heart abnormalities and limb defects. CdLS results from nucleotide changes in genes belonging to the cohesin pathway, involved in many biological processes important for cell life. CdLS cells show several dysregulated pathways, including gene transcription, RNA biogenesis, DNA repair, and oxidative stress response. The discoveries made in recent years regarding both the identification of genes responsible for CdLS and the cellular and molecular characterization of CdLS cells have opened the door to strategies aimed at establishing a therapeutic approach to CdLS. (By Dr Antonio Musio, https://jmg.bmj.com/content/early/2019/11/08/jmedgenet-2019-106277 )

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