Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
- PMID: 17192541
- PMCID: PMC7509984
- DOI: 10.1056/NEJMoa063804
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta
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.
Copyright 2006 Massachusetts Medical Society.
Conflict of interest statement
No potential conflict of interest relevant to this article was reported.
Figures
Similar articles
-
Deficiency of CRTAP in non-lethal recessive osteogenesis imperfecta reduces collagen deposition into matrix.Clin Genet. 2012 Nov;82(5):453-9. doi: 10.1111/j.1399-0004.2011.01794.x. Epub 2011 Oct 19. Clin Genet. 2012. PMID: 21955071 Free PMC article.
-
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.Eur J Hum Genet. 2009 Dec;17(12):1560-9. doi: 10.1038/ejhg.2009.75. Epub 2009 Jun 24. Eur J Hum Genet. 2009. PMID: 19550437 Free PMC article.
-
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.Nat Genet. 2007 Mar;39(3):359-65. doi: 10.1038/ng1968. Epub 2007 Feb 4. Nat Genet. 2007. PMID: 17277775 Free PMC article.
-
Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.Cell Tissue Res. 2010 Jan;339(1):59-70. doi: 10.1007/s00441-009-0872-0. Epub 2009 Oct 28. Cell Tissue Res. 2010. PMID: 19862557 Free PMC article. Review.
-
Osteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formation.Curr Opin Pediatr. 2014 Aug;26(4):500-7. doi: 10.1097/MOP.0000000000000117. Curr Opin Pediatr. 2014. PMID: 25007323 Free PMC article. Review.
Cited by
-
The structural basis for the collagen processing by human P3H1/CRTAP/PPIB ternary complex.Nat Commun. 2024 Sep 8;15(1):7844. doi: 10.1038/s41467-024-52321-6. Nat Commun. 2024. PMID: 39245686 Free PMC article.
-
Update on the Genetics of Osteogenesis Imperfecta.Calcif Tissue Int. 2024 Aug 11. doi: 10.1007/s00223-024-01266-5. Online ahead of print. Calcif Tissue Int. 2024. PMID: 39127989 Review.
-
Dickkopf-1 (DKK1) blockade mitigates osteogenesis imperfecta (OI) related bone disease.Mol Med. 2024 May 21;30(1):66. doi: 10.1186/s10020-024-00838-3. Mol Med. 2024. PMID: 38773377 Free PMC article.
-
Case Report: A novel de novo variant of COL1A1 in fetal genetic osteogenesis imperfecta.Front Endocrinol (Lausanne). 2023 Nov 2;14:1267252. doi: 10.3389/fendo.2023.1267252. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38027129 Free PMC article.
-
Analysis of miRNAs in Osteogenesis imperfecta Caused by Mutations in COL1A1 and COL1A2: Insights into Molecular Mechanisms and Potential Therapeutic Targets.Pharmaceuticals (Basel). 2023 Oct 4;16(10):1414. doi: 10.3390/ph16101414. Pharmaceuticals (Basel). 2023. PMID: 37895885 Free PMC article.
References
-
- Marini JC. Osteogenesis imperfecta In: Behrman RE, Kliegman RM, Jenson HB, eds. Nelson textbook of pediatrics. 17th ed. Philadelphia: W.B. Saunders, 2004: 2336–8.
-
- Byers P, Cole W. Osteogenesis imperfecta In: Royce PM, Steinmann B, eds. Connective tissue and its heritable disorders: molecular, genetic, and medical aspects. 2nd ed. New York: Wiley-Liss, 2002: 385–430.
-
- Bruckner P, Eikenberry EF. Formation of the triple helix of type I procollagen in cellulo: temperature-dependent kinetics support a model based on cis in equilibrium trans isomerization of peptide bonds. Eur J Biochem 1984;140:391–5. - PubMed
-
- Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B. Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet 1988;78:233–6. - PubMed
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Molecular Biology Databases