The involvement of CUL7, OBSL1, and CCDC8 in 3M syndrome was first described in Huber et al. (2005), Hanson et al. (2009) and Hanson et al. (2011), respectively, but only 103, 40, and 3 variants related to 3M syndrome were identified in the HGMD database (professional 2022.4). The gene discussed is CCDC8; the disease is 3M syndrome.