In addition, U1 snRNP is also reported to be associated with other diseases, such as autoimmunity connective tissue disease (MCTD), systemic lupus erythematosus, congenital myasthenic syndrome (CMS) and others (Chi et al., 2018) (Hof et al., 2005). The gene discussed is U1; the disease is congenital myasthenic syndrome.