Deficiency of Cartilage-Associated Protein in Recessive Lethal Osteogenesis Imperfecta

Authors

Aileen M. Barnes, National Institutes of Health
Weizhong Chang, National Institutes of Health
Roy Morello, Baylor College of Medicine
Wayne A. Cabral, National Institutes of Health
MaryAnn Weis, University of Washington
David R. Eyre, University of Washington
Sergey Leikin, National Institutes of Health
Elena Makareeva, National Institutes of Health
Natalia Kuznetsova, National Institutes of Health
Thomas E. Uveges, National Institutes of Health
Aarthi Ashok, National Institutes of Health
Armando W. Flor, National Institutes of Health
John J. Mulvihill, University of Oklahoma Health Sciences Center
Patrick L. Wilson, University of Oklahoma Health Sciences Center
Usha T. Sundaram, Virginia Commonwealth University
Brendan Lee, Baylor College of Medicine
Joan C. Marini, National Institutes of Health

Document Type

Article

Original Publication Date

2006

Journal/Book/Conference Title

The New England Journal of Medicine

Volume

355

DOI of Original Publication

10.1056/NEJMoa063804

Comments

Originally Published at http://dx.doi.org/10.1056/NEJMoa063804

Date of Submission

January 2015

Abstract

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.

Rights

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