Reference no: EM132526223

Describe the clinical features ofosteogenesis imperfecta and how this disorder is clinically classified. Effectively describe the different molecular bases, reviewing all the genes known to cause this disorder. Greater emphasis should be on onCOL1A1andCOL1A2. What protein do they encode and what is its function? Explain the cellular and metabolic dysfunction which leads to disease pathogenesis i.e. how do mutations inCOL1A1andCOL1A2cause disease? Articulate the relationship between genotype and phenotype forCOL1A1andCOL1A2. In particular, focus on how the location and nature of mutations impact on phenotypic severity.