| Summary: | Osteogenesis imperfecta (OI) is an inherited disease of bone characterized by increased bone fragility. Here, we report the results of the molecular architecture of osteogenesis imperfecta research in patients from Bashkortostan Republic, Russia. In total, 16 mutations in <i>COL1A1</i>, 11 mutations in <i>COL1A2</i>, and 1 mutation in <i>P3H1</i> and <i>IFIMT5</i> genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in <i>CLCN7</i>, <i>ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R</i>, and <i>TGFB1</i> that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in <i>COL1A1</i> and c.1197+5G>A in <i>COL1A2</i>; c.579delT, p. Gly194fs in <i>COL1A1</i> and c.1197+5G>A in <i>COL1A2</i>; c.2971G>C, p. Gly991Arg in <i>COL1A2</i> and c.212G>C, p.Ser71Thr in FGF23; c.-14C>T in <i>IFITM5</i> and c.1903C>T, p. Arg635* in <i>LAMB3</i>) in 4 patients with typical OI clinic phenotypes.
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