Osteogenesis imperfecta gene identified

CRTAP affects prolyl 3-hydroxylation of fibrillar collagen

Jeffrey M. Perkel
Oct 18, 2006
Researchers have identified a new gene linked to osteogenesis imperfecta, according to a report in Cell. Brendan Lee, a Howard Hughes Medical Institute investigator at Baylor College of Medicine, and colleagues report that mutation of CRTAP, an apparently non-enzymatic member of the family of prolyl 3-hydroxylases, causes a recessive form of OI - or brittle bone disease - in mice and humans. "It's a game-changer in a way," said Dan Cohn, director of the Skeletal Genetics Laboratory at Cedars Sinai Medical Center in Los Angeles. "It changes our thinking about the disease and counseling for the disease and testing for the disease." David Rimoin, director of Cedar Sinai's International Skeletal Dysplasia Registry agreed. "It's a whole new paradigm in OI," he told The Scientist.The classical description of OI is an autosomal dominant disease caused by mutations in the genes for type I collagen. About 90%...