As a general splicing factor, EFTUD2 participates in various physiological processes such as the organization of myofilaments (Meissner et al., 2009) and P granule development (Updike and Strome, 2009), as well as, pathophysiological processes of some genetic disorders (Löb et al., 2020; Wang et al., 2021; Yang et al., 2022). Here, EFTUD2 is linked to hereditary disease.