Bardai et al. (2016), alsoshowed that 77% of patients with a moderate/severe spectrum carry mutations in theCOL1A1/COL1A2 genes, 9% of the patients share genetic changesin the IFITM5 gene, and 12% of the patients carry mutations ingenes related to a recessive OI pattern. The results of Bardai et al. (2016) suggest that thepathogenic changes are found mainly in SERPINF1,CRTAP, P3H1, WNT1 andFKBP10 genes among those related with recessive OI pattern. Inour sample, we identified pathogenic changes related with recessive pattern only inP3H1 and FKBP10 genes. The gene discussed is P3H1; the disease is osteogenesis imperfecta.