It carries an α1(I)-Gly349Cys mutation that had originally been identified in two probands with moderately severe OI and, subsequently, in one lethal case (Forlino et al., 1999; Sarafova et al., 1998; https://databases.lovd.nl/shared/genes/COL1A1). The gene discussed is COL1A1; the disease is osteogenesis imperfecta.