MAU2 and Cornelia de Lange syndrome: Cornelia de Lange Syndrome (CdLS) is a genetic disease due to spontaneous mutations in genes of the cohesin protein complex, mainly NIPBL, in 70% of the cases [1–4] and SMC1A, SMC3, RAD21, BRD4, HDAC8, ANKRD11 and MAU2 [5–9].