Chapter 1 Evolution of the Present Understanding of the Clinical and Genetic Heterogeneity and Molecular and Biochemical Basis of Osteogenesis Imperfecta

Abstract

The population prevalence of osteogenesis imperfecta (OI) syndromes is such that about half of all the heritable disorders of the skeleton in a predominantly European population result from OI. Over the past 200 years many papers and theses have been written about the brittle bone disorders. However, in the last 35 years advances in protein biochemistry, cell biology, molecular genetics and clinical medicine have advanced knowledge to a point today where OI has been found to result from mutations in over 12 distinct gene loci. The collective discoveries have enriched knowledge of the respective fields and built a solid foundation for future enquiry into the systematic management of OI.