Out of 36 overlapping high-confidence ASD-risk genes in both MSSNG-2017 and MSSNG-2022 studies, six were mis-spliced in DM1, including SCN2A, ANK2 and SHANK2 (Fig. 1e,f and Extended Data Fig. 1f). The gene discussed is SHANK2; the disease is myotonic dystrophy type 1.