The major health consequences in osteogenesis imperfecta (OI) arise from functionally compromised bone. OI is a polygenic disease with a variable phenotype spanning mild to lethal. The majority of mutations associated with OI occur in the type I collagen encoding genes and give rise to an autosomal dominant form of the disease. Novel mutations in seven other genes involved in collagen assembly and processing and in two genes involved in cellular differentiation have recently been associated with autosomal recessive forms of OI. In this review of cellular development and function in OI, we discuss the cells relevant to the OI phenotype, their crosstalk and coupling, mutations and their consequences, and potential molecular pathways underlying the translation of genotype to phenotype.
|Original language||English (US)|
|Title of host publication||Osteogenesis Imperfecta|
|Subtitle of host publication||A Translational Approach to Brittle Bone Disease|
|Number of pages||12|
|State||Published - Sep 1 2013|
- Matrix feedback lineage dysregulation
ASJC Scopus subject areas