IFITM5 and osteogenesis imperfecta: Humans with OI due to IFITM5 mutations mainly present a unique heterozygous replacement (c.-14C>T) of the 5′-untranslated region, which results in autosomal dominant OI type V. Accordingly, a transgenic mouse model with IFITM5 c.-14C>T mutation (IFITM5) exhibits severe skeletal malformation, as well as perinatal death [48,49].