In order to characterize themutation profile of OI in Brazilian patients, we analyzed 30 unrelated patientsthrough SSCP screening, NGS gene panel, and/or Sanger sequencing for the 11 mostfrequently mutated genes in the database of mutations, includingCOL1A1, COL1A2, P3H1,CRTAP, PPIB, SERPINH1,SERPINF1, FKBP10, SP7, WNT1 andIFITM5. This evidence concerns the gene P3H1 and osteogenesis imperfecta.