Osteogenesis Imperfecta Research Paper
ABSTRACT
Osteogenesis Imperfecta Dominant and Recessive Pattern
Background
Osteogenesis Imperfecta (OI) is heterogenous genetic disorder in the type I collagen and is characterized by susceptibility bone fragility and fractures with variable severity and presumed or proven defect in type I collagen biosynthesis. Type I collagen is the abundant protein composing the extracellular matrix of bone and skin in human body. There are 3 pathogenesis mechanisms of OI: 85-90% of individuals with OI have dominant mutation in type I procollagen genes (COL1A1 and COL1A2) and recessive mutation of OI occur in genes involved in defect of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding type I procollagen chaperones (SERPINH1
Osteogenesis Imperfecta Dominant and Recessive Pattern
Background
Osteogenesis Imperfecta (OI) is heterogenous genetic disorder in the type I collagen and is characterized by susceptibility bone fragility and fractures with variable severity and presumed or proven defect in type I collagen biosynthesis. Type I collagen is the abundant protein composing the extracellular matrix of bone and skin in human body. There are 3 pathogenesis mechanisms of OI: 85-90% of individuals with OI have dominant mutation in type I procollagen genes (COL1A1 and COL1A2) and recessive mutation of OI occur in genes involved in defect of collagen modifying enzymes (CRTAP, LEPRE1 and PPIB) and in genes coding type I procollagen chaperones (SERPINH1