NIPBL and Cornelia de Lange syndrome: In contrast, CdLS arises due to autosomal dominant mutations in cohesin subunits (SMC1A, SMC3 and RAD21) and cohesin auxiliary factors (NIPBL and HDAC8) (Krantz et al., 2004; Tonkin et al., 2004; Schüle et al., 2005; Musio et al., 2006; Deardorff et al., 2007, 2012a,b; Gordillo et al., 2008; Yuan et al., 2015).