As expected from a frameshift with stop codon mutation in trans to an allelic variant that is associated with partial aberrant splicing, the analysis showed an overall decreased expression of FECH mRNA by more than 50% in the EPP cohort (Figure 1E) compared to the control samples, which confirms the validity of the method already demonstrated in previous works and in other mutations of FECH gene (Brancaleoni, et al., 2018). The gene discussed is FECH; the disease is autosomal erythropoietic protoporphyria.