New Ifitm5 S42L mouse model for atypical type VI OI connects types V and VI Osteogenesis Imperfecta

摘要

Osteogenesis Imperfecta (OI) is a rare collagen-related bone disorder. Type V OI, caused by recurrent dominant mutation in IFITM5/BRIL, and type VI OI, caused by recessive null mutations in SERPINF1/PEDF, have distinct features. IFITM5 S40L, reported in 8 patients, causes severe dominant OI with phenotype, bone histology and decreased cellular secretion of PEDF similar to type VI OI, rather than Type V OI. Our objective is understanding the role of the pathways connecting IFITM5 and SERPINF1 in bone development.