Although there are 20 different recessive genes connected to OI pathology, about 70%–90% of patients with OI harbor dominant pathogenic variants in the COL1A1 (OMIM accession number 120150) and COL1A2 (OMIM accession number 120160) genes (Marini et al., 2017; Van Dijk & Sillence, 2014a; Womack, 2014). The gene discussed is COL1A1; the disease is osteogenesis imperfecta.