IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

摘要: Osteogenesis imperfecta (OI) covers a spectrum of bone fragility disorders. OI is classified into five types; however, the genetic causes might hide in pathogenic variants 20 different genes. Often clinical types mimic each other. This sometimes makes it impossible to identify type clinically, which can be risk for patients. Up 90% I–IV are caused by COL1A1/2 V c.-14C > T variant 5′UTR IFITM5 gene and characterized hyperplastic callus formation ossification interosseous membranes. In current study, we performed region mutational analysis using Sanger sequencing on 90 patients who were negative variants. We also investigated phenotypes with genetically confirmed V. The proportion our cohort all was 1.48%. one family, there history at least three generations. Phenotype severity differed from mild extremely severe among patients, but harbored same typical variant. One patient had no visible symptoms suspected have IV previously. identified case 15-year-old male, has hearing loss brittleness teeth. underlined some unique features; not develop them. phenotype even broader than previously suspected, including features: teeth brittleness, bluish sclera, loss, long bones deformities, joint laxity. suggest that tested presence an variant, if they expressing symptoms. Further studies pathological nature mechanisms necessary.