The successful application of an integrated exome-transcriptome analysis that can effectively increase the sensitivity of mutation analyses has therapeutic significance because patients with some classes of splicing abnormalities can potentially be treated using splicing-modulating chemicals such as RECTAS [32], a rectifier of aberrant splicing that rectifies aberrant IKBKAP splicing in patients with dysautonomia, and TG003 [33], an inhibitor of CDC2-like kinase 1 (CLK1) that is a potential drug for Duchenne muscular dystrophy. Here, ELP1 is linked to dysautonomia.