The disruption of splicing regulation is involved in complex multifactorial diseases such as amyotrophic lateral sclerosis (ALS), mendelian disorders such as myotonic dystrophy (Lee & Rio, 2015; López‐Martínez et al., 2020), and specific NDDs such as PUF60‐ and PQBP1‐related disorders (OMIM #615583 and #309500, respectively) (El Chehadeh et al., 2016; Kalscheuer et al., 2003; La Cognata et al., 2020). The gene discussed is PQBP1; the disease is amyotrophic lateral sclerosis.