Similarly, the equivalent patch on the Scc4 ortholog, MAU2, mediates cohesin recruitment to chromosomes in Xenopus extracts (Hinshaw et al, 2017), and a small deletion of this region in human MAU2 causes the developmental disorder Cornelia de Lange syndrome (Parenti et al, 2020). The gene discussed is MAU2; the disease is Cornelia de Lange syndrome.