MBTPS2 and osteogenesis imperfecta: In this study, we applied our knowledge on the molecular signature of MBTPS2-OI that we previously gathered via transcriptome, lipidome and ECM proteome analyses of patient-derived fibroblasts to infer the pathogenicity of the novel MBTPS2 p.Glu172Asp variant in a severe case of Osteogenesis imperfecta.