Collagen genes and inherited connective tissue disease.

Since it was established that defects in collagen metabolism were associated with inherited connective tissue disease (McKusick, 1972), considerable effort has been put into discovering the molecular basis of these genetic disorders. Up to 5 years ago a link between structural mutations in collagen genes and inherited connective tissue disease was considered likely, but there was little direct evidence to demonstrate the association (Sykes et al., 1977; Prockop et al., 1979). But remarkable progress has since been made in analysing the molecular basis of inherited collagen disease at the gene level (Shapiro & Rowe, 1983; Prockop & Kivirikko, 1984; Byers & Bonadio, 1984). This article reviews the recent progress in seeking out the molecular defects in collagen genes associated with inherited disease and discusses the impact this knowledge has on our understanding of the control of collagen biosynthesis and the pathology of the disorders. In addition, I consider present and future prospects for detecting other mutations with the ultimate aim of identifying patients at risk.