Interestingly, experimental perturbation of disease-causing candidate genes, such as those identified in Treacher Collins syndrome (TCS), Diamond–Blackfan anaemia (DBA) and Shwachman–Diamond syndrome (SDS), have been reported to result in shifted localization of DDX21 from nucleoli to the general nucleoplasm, with associated changes in DDX21 target chromatin interaction and rRNA processing [24]. This evidence concerns the gene DDX21 and Shwachman-Diamond syndrome.