Cayami FK et al. described a family with adult OI resulting from a novel homozygous genetic alternation (c.1365del) in exon 11 of causative gene CREB3L1, which leads to the production of frameshift in NM_052854.3 (p. Pro458Argfs*25). The gene discussed is CREB3L1; the disease is osteogenesis imperfecta.