Original Publication Date
The New England Journal of Medicine
DOI of Original Publication
Date of Submission
Classic osteogenesis imperfecta, an autosomal dominant disorder associated with osteoporosis and bone fragility, is caused by mutations in the genes for type I collagen. A recessive form of the disorder has long been suspected. Since the loss of cartilage-associated protein (CRTAP), which is required for post-translational prolyl 3-hydroxylation of collagen, causes severe osteoporosis in mice, we investigated whether CRTAP deficiency is associated with recessive osteogenesis imperfecta. Three of 10 children with lethal or severe osteogenesis imperfecta, who did not have a primary collagen defect yet had excess post-translational modification of collagen, were found to have a recessive condition resulting in CRTAP deficiency, suggesting that prolyl 3-hydroxylation of type I collagen is important for bone formation.
From The New England Journal of Medicine, Barnes, A. M., Chang, W., Morello, R. et al., Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta, Vol. 355, Page 2757, Copyright © 2006 Massachusetts Medical Society. Reprinted with permission.
Is Part Of
VCU Medical Center Publications