In conclusion, we find that the overlapping trends in the molecular characteristics of fibroblasts derived from the proband and known MBTPS2-OI patients at the transcript, protein and relative abundance of fatty acid levels supports biological importance and the pathogenicity of MBTPS2 c.516A>C (p.Glu172Asp) in OI. Here, MBTPS2 is linked to osteogenesis imperfecta.