We found changes in the expression of genes involved in bone and cartilage development (downregulation of DKK1, upregulation of VEGFA and ADAMTS12) and SREBP-target genes (downregulation of SCD, FADS1 and FADS2) in MBTPS2-OI patient-derived fibroblasts. The gene discussed is MBTPS2; the disease is osteogenesis imperfecta.