Rare Variants in the P3H1 Gene in Patients With Osteogenesis Imperfecta of Bashkir Origin From Russia

Osteogenesis imperfecta (OI) is a heterogeneous group of genetic diseases characterized by bone fragility and low bone mass. We report the identification of two unrelated families with OI of Bashkir origin-one with homozygous, the other with compound heterozygous probably pathogenic variants of the P3H1 gene, as well as one case of heterozygous carriage in a patient with clinical manifestations that do not correspond in severity to type VIII OI. Thus, an ethnospecific previously undescribed population aspect of the prevalence of recessive pathogenic variants p.Glu351Ter, p.Gly650Arg, 1720 + 4G>A in the P3H1 gene associated with various clinical phenotypes has been identified.