Journal
NEW ENGLAND JOURNAL OF MEDICINE
Volume 355, Issue 26, Pages 2757-2764Publisher
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa063804
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Funding
- Intramural NIH HHS [Z01 HD008830] Funding Source: Medline
- NIAMS NIH HHS [AR37318, R37 AR037318, R01 AR037318, R01 AR036794] Funding Source: Medline
- NICHD NIH HHS [HD22657, P01 HD022657] Funding Source: Medline
- NIDCR NIH HHS [R01 DE016990, DE016990] Funding Source: Medline
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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.
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