Heterozygous loss-of-function (LoF) mutations in BRD4 similarly result in a CdLS-like syndrome (Olley et al., 2018) and NIPBL, whose disruption is the most frequent genetic cause of CdLS, was linked to transcriptional pausing via its interaction with the Integrator complex (van den Berg et al., 2017). This evidence concerns the gene NIPBL and Cornelia de Lange syndrome.