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. The gene discussed is CRTAP; the disease is osteogenesis imperfecta.