Next-generation sequencing (NGS) and dedicated genetic panels, which target not only mutations in COL1A1 and COL1A2 but also recessive mutations in genes like KBP10, PPIB, SERPINF1, WNT1, BMP1, CRTAP, P3H1, SERPINH1, and IFITM5, are becoming increasingly important in the genetic diagnosis of OI [5]. This evidence concerns the gene COL1A1 and osteogenesis imperfecta.