Downregulating or depleting human SF3b4 resulted in various diseases, such as tumorigenesis (Denu and Burkard, 2017; Zhou et al., 2017; Liu et al., 2018; Shen and Nam, 2018; Shen et al., 2018) and Nager syndrome (NS) that is characterized by defective craniofacial formation (Bernier et al., 2012). Here, SF3B4 is linked to Nager acrofacial dysostosis.