N Engl J Med. 2006 Dec 28;355(26):2757-64.

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Barnes AM, Chang W, Morello R, Cabral WA, Weis M, Eyre DR, Leikin S, Makareeva E, Kuznetsova N, Uveges TE, Ashok A, Flor AW, Mulvihill JJ, Wilson PL, Sundaram UT, Lee B, Marini JC.

Source

National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.

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.

PMID:: 17192541; [PubMed - indexed for MEDLINE]

Free full text

LinkOut - more resources

Full Text Sources

Other Literature Sources

COS Scholar Universe

Medical

Supplemental Content

Save items

Related citations in PubMed

CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis. [Eur J Hum Genet. 2009]
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.
Van Dijk FS, Nesbitt IM, Nikkels PG, Dalton A, Bongers EM, van de Kamp JM, Hilhorst-Hofstee Y, Den Hollander NS, Lachmeijer AM, Marcelis CL, et al. Eur J Hum Genet. 2009 Dec; 17(12):1560-9. Epub 2009 Jun 24.
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta. [Nat Genet. 2007]
Prolyl 3-hydroxylase 1 deficiency causes a recessive metabolic bone disorder resembling lethal/severe osteogenesis imperfecta.
Cabral WA, Chang W, Barnes AM, Weis M, Scott MA, Leikin S, Makareeva E, Kuznetsova NV, Rosenbaum KN, Tifft CJ, et al. Nat Genet. 2007 Mar; 39(3):359-65. Epub 2007 Feb 4.
Review Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta. [Cell Tissue Res. 2010]
Review Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta.
Marini JC, Cabral WA, Barnes AM. Cell Tissue Res. 2010 Jan; 339(1):59-70. Epub 2009 Oct 28.
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation. [J Med Genet. 2009]
Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation.
Willaert A, Malfait F, Symoens S, Gevaert K, Kayserili H, Megarbane A, Mortier G, Leroy JG, Coucke PJ, De Paepe A. J Med Genet. 2009 Apr; 46(4):233-41. Epub 2008 Dec 16.
Review New perspectives on osteogenesis imperfecta. [Nat Rev Endocrinol. 2011]
Review New perspectives on osteogenesis imperfecta.
Forlino A, Cabral WA, Barnes AM, Marini JC. Nat Rev Endocrinol. 2011 Jun 14; 7(9):540-57. Epub 2011 Jun 14.

See reviews... See all...

Cited by 36 PubMed Central articles

A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta. [PLoS One. 2012]
A Novel Mutation in LEPRE1 That Eliminates Only the KDEL ER- Retrieval Sequence Causes Non-Lethal Osteogenesis Imperfecta.
Takagi M, Ishii T, Barnes AM, Weis M, Amano N, Tanaka M, Fukuzawa R, Nishimura G, Eyre DR, Marini JC, et al. PLoS One. 2012; 7(5):e36809. Epub 2012 May 15.
Osteogenesis Imperfecta: A Review with Clinical Examples. [Mol Syndromol. 2011]
Osteogenesis Imperfecta: A Review with Clinical Examples.
van Dijk FS, Cobben JM, Kariminejad A, Maugeri A, Nikkels PG, van Rijn RR, Pals G. Mol Syndromol. 2011 Dec; 2(1):1-20. Epub 2011 Oct 12.
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. [Am J Hum Genet. 2011]
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
Mordechai S, Gradstein L, Pasanen A, Ofir R, El Amour K, Levy J, Belfair N, Lifshitz T, Joshua S, Narkis G, et al. Am J Hum Genet. 2011 Sep 9; 89(3):438-45. Epub 2011 Sep 1.

See all...

Related information

Related Citations
Calculated set of PubMed citations closely related to the selected article(s) retrieved using a word weight algorithm. Related articles are displayed in ranked order from most to least relevant, with the “linked from” citation displayed first.
Gene (OMIM)
Gene records associated with Online Mendelian Inheritance in Man (OMIM) records that cite the current articles in their reference lists.
Nucleotide (Weighted)
Nucleotide records associated with the current articles through the Gene database. These are the related sequences on the Gene record that are added manually by NCBI.
OMIM (calculated)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as references in the light bulb links within or in the citations at the end of the OMIM record. The references available through the light bulb link are collected using the PubMed related articles algorithm to identify records with similar terminology to the OMIM record.
OMIM (cited)
Online Mendelian Inheritance in Man (OMIM) records that include the current articles as reference cited at the end of the OMIM record.
Protein (Weighted)
Protein records associated with the current articles through related Gene database records. These are the related sequences on the Gene record that are added manually by NCBI.
Cited in PMC
Full-text articles in the PubMed Central Database that cite the current articles.

Recent activity

Clear Turn Off Turn On

Deficiency of cartilage-associated protein in recessive lethal osteogenesis impe...
Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.
N Engl J Med. 2006 Dec 28 ;355(26):2757-64.

PubMed
An intervention to decrease catheter-related bloodstream infections in the ICU.
An intervention to decrease catheter-related bloodstream infections in the ICU.
N Engl J Med. 2006 Dec 28 ;355(26):2725-32.

PubMed
Propofol infusion syndrome: a case of increasing morbidity with traumatic brain ...
Propofol infusion syndrome: a case of increasing morbidity with traumatic brain injury.
Am J Crit Care. 2007 Jan ;16(1):82-5.

PubMed
Nurses' implementation of guidelines for ventilator-associated pneumonia from th...
Nurses' implementation of guidelines for ventilator-associated pneumonia from the Centers for Disease Control and Prevention.
Am J Crit Care. 2007 Jan ;16(1):28-36; discussion 37; quiz 38.

PubMed
Deficits in synaptic transmission and learning in amyloid precursor protein (APP...
Deficits in synaptic transmission and learning in amyloid precursor protein (APP) transgenic mice require C-terminal cleavage of APP.
J Neurosci. 2006 Dec 27 ;26(52):13428-36.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to:

Deficiency of cartilage-associated protein in recessive lethal osteogenesis imperfecta.

Source

Abstract

Publication Types, MeSH Terms, Substances, Grant Support

Publication Types

MeSH Terms

Substances

Grant Support

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Supplemental Content

Save items

Related citations in PubMed

Cited by 36 PubMed Central articles

Related information

Recent activity

Simple NCBI Directory

Getting Started

Resources

Popular

Featured

NCBI Information