title: [Genetic basis for skeletal disease. Osteogenesis imperfecta and genetic abnormalities].
abstract: Patients with osteogenesis imperfecta (OI) represent various degrees of bone fragility and accompany many clinical manifestations such as dentinogenesis imperfecta, blue sclera, growth disturbance, hearing impairment and so on. Although most OI is caused by genetic mutation of type I collagen gene ; COL1A1 and COL1A2, other genes that concerns post-translational modification of type I collagen molecules such as CRTAP, LEPRE1, PPIB, SERPINH1 and FKBP10 were found to be the causative candidates of OI. On the other hand, genetic causes of type V and type VI OI are not identified. For the classification of OI, Sillence's classification had been used and had been repeatedly revised at the times of identification of new causative genes of OI.
authors.affiliation: Department of Pediatrics, Okayama University Hospital.
authors.forename: Kosei
authors.initials: K
authors.lastname: Hasegawa
mesh_terms: D003094:Collagen / Q000235:genetics; D024042:Collagen Type I / Q000235:genetics / Q000378:metabolism; D000090602:Collagen Type I, alpha 1 Chain; D021983:Cyclophilins / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D050958:HSP47 Heat-Shock Proteins / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D018832:Molecular Chaperones; D009154:Mutation; D010013:Osteogenesis Imperfecta / Q000145:classification / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D064828:Prolyl Hydroxylases; D011509:Proteoglycans / Q000235:genetics; D022021:Tacrolimus Binding Proteins / Q000235:genetics
chemical_list: C108053:CRTAP protein, human; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D016326:Extracellular Matrix Proteins; D050958:HSP47 Heat-Shock Proteins; D008562:Membrane Glycoproteins; D018832:Molecular Chaperones; D011509:Proteoglycans; C494660:SERPINH1 protein, human; C081786:cyclophilin B; D003094:Collagen; D064828:Prolyl Hydroxylases; C485657:P3H1 protein, human; D021983:Cyclophilins; D022021:Tacrolimus Binding Proteins; C110054:FKBP10 protein, human