Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)

Genes (Basel). 2022 Jan 10;13(1):124. doi: 10.3390/genes13010124.

Abstract

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 COL1A1, 11 mutations in COL1A2, and 1 mutation in P3H1 and IFIMT5 genes were found in isolated states; 11 of them were not previously reported in literature. We found mutations in CLCN7, ALOX12B, PLEKHM1, ERCC4, ARSB, PTH1R, and TGFB1 that were not associated with OI pathogenesis in patients with increased bone fragility. Additionally, we found combined mutations (c.2869C>T, p. Gln957* in COL1A1 and c.1197+5G>A in COL1A2; c.579delT, p. Gly194fs in COL1A1 and c.1197+5G>A in COL1A2; c.2971G>C, p. Gly991Arg in COL1A2 and c.212G>C, p.Ser71Thr in FGF23; c.-14C>T in IFITM5 and c.1903C>T, p. Arg635* in LAMB3) in 4 patients with typical OI clinic phenotypes.

Keywords: I type of collagen; metabolic bone disease; next-generation sequencing (NGS).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Collagen Type I / genetics*
  • Female
  • Genetic Association Studies
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Membrane Proteins / genetics*
  • Middle Aged
  • Mutation*
  • Osteogenesis Imperfecta / epidemiology
  • Osteogenesis Imperfecta / genetics
  • Osteogenesis Imperfecta / pathology*
  • Phenotype
  • Prolyl Hydroxylases / genetics*
  • Proteoglycans / genetics*
  • Russia
  • Young Adult

Substances

  • COL1A2 protein, human
  • Collagen Type I
  • IFITM5 protein, human
  • Membrane Glycoproteins
  • Membrane Proteins
  • Proteoglycans
  • Prolyl Hydroxylases
  • P3H1 protein, human