Osteogenesis imperfecta

Others

• OI from the cellular and molecular perspective
  • 1. Osteogenesis: process of bone formation
  • 2. The genes involved in OI: what happens when there is a mutation
  • 3. Inheritance in OI and reproductive options
  • 4. Clinical and genetic classification of OI
  • Summary chapter 1
• The bone in OI
• Other orthopedic disorders caused by OI
• Oro-cranial disorders in OI
• Hearing in OI
• Vision and OI
• Other clinical features of OI
• Results of the study about osteogenesis imperfecta (Rare Commons)

Summary chapter 1

• Osteogenesis imperfecta (OI) is a genetic condition characterised by an alteration in the formation of collagen, which leads to increased bone fragility.
• The collagen fibers are made up of alpha-1 chains (encoded by the COL1A1 gene) and an alpha-2 chain (encoded by the COL1A2 gene), which bond to form a triple helix.
• A mutation is a stable change in a gene (that may be inherited), which causes an alteration in the synthesis of a protein that it encodes, and as a result, modifies its function.
• Most OI is caused by mutations in the genes COL1A1 and COL1A2. However, in recent years a number of other genes have been identified in relation to different forms of OI: SERPINF1, CRTAP, P3H1, PPIB, SERPINH1, FKBP10, BMP1, IFITM5, SP7, TMEM38B, WNT1, CREB3L1, MBTPS2, SPARC, PLOD2, PLS3, SEC24D, P4HB, P4HB and NBAS.
• OI may be passed on from parents to children through autosomal dominant inheritance or autosomal recessive inheritance, or it may be sex-linked. In addition, we can have de novo mutations. These are produced at the time of conception and are not inherited from either parent. 

Last modified

11 January 2023