Including the two newly reported cases in this study, a total of 8 Chinese patients with Rubinstein-Taybi syndrome (RSTS) caused by EP300 gene variants were included (Yang and Chen, 2023; Sun et al., 2021; Huang et al., 2023; Du et al., 2023; Bai et al., 2023; Yang et al., 2024) (details in Table 1). Here, EP300 is linked to Rubinstein-Taybi syndrome.