A splice variant in COL1A1, c.3208-6C > T, a variant that was not predicted to markedly affect mRNA splicing, had previously been identified using Sanger sequencing in one of our investigated individuals (patient no. 6), a boy diagnosed with OI type III [1, 22, 41]. The gene discussed is COL1A1; the disease is osteogenesis imperfecta type 3.