Osteogenesis imperfecta (OI), also known as brittle bone disease, is a disorder of connective tissue typically featured by fragile bones and susceptibility to fracture, mostly (~ 90%) caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes, which encode type I collagen (1, 2). This evidence concerns the gene COL1A1 and osteogenesis imperfecta.