You are presented with a case of a specific molecular condition: Disease pathogenesis research paper, DU, Singapore

Description:

You are presented with a case of a specific molecular condition. You will critically research the literature, describe the clinical, molecular and biochemical aspects of the case and discuss their significance in the context of the literature.

Briefly, describe the clinical features of osteogenesis imperfecta and how this disorder is clinically classified.

Effectively describe the different molecular bases, reviewing all the genes known to cause this disorder. Greater detail should be provided on COL1A1 and COL1A2.

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 in COL1A1 and COL1A2 cause disease?

Articulate the relationship between genotype and phenotype for COL1A1 and COL1A2. In particular, focus on how the location and nature of mutations impact on phenotypic severity.