By qRT-PCR, we observed a significant downregulation in the expression of SCD, FADS1, FADS2 and ACSL3 in MBTPS2-OI patient fibroblasts, and a trend towards suppression of FADS1 and FADS2 expression in MBTPS2-IFAP/KFSD patient fibroblasts (Figure 9A), in line with the RNA-sequencing data. This evidence concerns the gene FADS2 and osteogenesis imperfecta.