Endocrine Abstracts

Osteogenesis imperfecta (OI) is a heritable skeletal disorder caused by defective bone formation. OI type V (MIM#:614757) develops due to mutation in the IFITM. Mutation c.-14C >T in the IFITM5 is more common whereas only five reported patientshave a c.119C >T mutation. Patients with IFITM5:c.119C >T mutation usually have low-traumatic fractures in the prenatal period of development, severe limb and chest deformities, short height, verteb...