Extracellular Matrix and Skeletal Dysplasias

Skeletal dysplasia is a group of inherited rare diseases affecting bone and cartilage, in some cases along with other tissues, including the connective tissue proper. Several skeletal dysplasias are caused by mutations of genes encoding extracellular matrix (ECM) proteins, which are inherited with autosomal recessive, autosomal dominant or X-linked patterns. In this chapter, we describe the composition, the structure and the function of connective tissue proper, cartilage and bone ECM, identifying mutant genes primarily causing skeletal dysplasias. The chapter is meant to walk the reader from physiology to pathology, explaining the molecular mechanisms governing ECM biology and the genetic modifications involved in skeletal dysplasias caused by ECM alterations.