Furthermore, we selected six genes associated with recessive forms of OI associated with severe skeletal phenotypes, and involved in different aspects of bone formation, including osteoblast differentiation (CREB3L1, MBTPS2, and SPARC), bone mineralization (SERPINF1 and IFITM5) and collagen transport (SEC24D). This evidence concerns the gene MBTPS2 and osteogenesis imperfecta.