We identified a homozygous initiator codon loss-of-function mutation in the CCDC134 gene along with other possible predisposing genetic variants, including the homozygous variants of the genes CCDC134, COL15A1 and ZPFM, and the heterozygous variants of the genes MYH3, BCHE, AUTS2 and ZFPM1. We discussed how the combination of these variants may cause the complex phenotype of OI and EDS features. The gene discussed is CCDC134; the disease is osteogenesis imperfecta.