In particular, we analysed a set of U12 intron-containing genes, that were shown to be sensitive to SMN deficiency in mammalian SMA cells, including patient cells (Atxn10, Mapk8, Parp1, Vps16, C19orf54, Thoc2, Clcn7, Harsl, Tmem41b)16,17. Here, VPS16 is linked to proximal spinal muscular atrophy.