Osteogenesis imperfecta type 1

Common Name(s)

Osteogenesis imperfecta type 1

Osteogenesis imperfecta (OI) is a genetic disorder that mainly affects the bones. Osteogenesis imperfecta type 1 is the mildest form of OI and is characterized by bone fractures during childhood and adolescence that often result from minor trauma. Fractures occur less frequently in adulthood. People with mild forms of the condition typically have a blue or grey tint to the part of the eye that is usually white (the sclera), and may develop hearing loss in adulthood. Affected individuals are usually of normal or near normal height. Most of the mutations that cause osteogenesis imperfecta type 1 occur in the COL1A1 gene. These genetic changes reduce the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily. OI type 1 exhibits an autosomal dominant pattern of inheritance.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 1" for support, advocacy or research.

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Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

Last Updated: 15 Feb 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 1" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

http://www.cbbf.org

Last Updated: 15 Feb 2013

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Osteogenesis imperfecta type 1" returned 39 free, full-text research articles on human participants. First 3 results:

Molecular mechanism of alpha 1(I)-osteogenesis imperfecta/Ehlers-Danlos syndrome: unfolding of an N-anchor domain at the N-terminal end of the type I collagen triple helix.
 

Author(s): Elena Makareeva, Wayne A Cabral, Joan C Marini, Sergey Leikin

Journal: J. Biol. Chem.. 2006 Mar;281(10):6463-70.

 

We demonstrate that 85 N-terminal amino acids of the alpha1(I) chain participate in a highly stable folding domain, acting as the stabilizing anchor for the amino end of the type I collagen triple helix. This anchor region is bordered by a microunfolding region, 15 amino acids in ...

Last Updated: 6 Mar 2006

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The phenotypic features of osteogenesis imperfecta resulting from a mutation of the carboxyl-terminal pro alpha 1 (I) propeptide that impairs the assembly of type I procollagen and formation of the extracellular matrix.
 

Author(s): W G Cole, C W Chow, J F Bateman, D O Sillence

Journal: J. Med. Genet.. 1996 Nov;33(11):965-7.

 

The features of a baby with lethal perinatal osteogenesis imperfecta (OI-II), resulting from the substitution of tryptophan 94 by cysteine in the carboxyl-terminal propeptide of pro alpha 1 (I) chains of type I procollagen, were studied. The limbs and torso were of normal length, ...

Last Updated: 13 Mar 1997

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Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate crystalline hydroxyapatite.
 

Author(s): A A Culbert, M P Lowe, M Atkinson, P H Byers, G A Wallis, K E Kadler

Journal: Biochem. J.. 1995 Nov;311 ( Pt 3)():815-20.

 

We identified two infants with lethal (type II) osteogenesis imperfecta (OI) who were heterozygous for mutations in the COL1A1 gene that resulted in substitutions of aspartic acid for glycine at position 220 and arginine for glycine at position 664 in the product of one COL1A1 allele ...

Last Updated: 21 Dec 1995

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Osteogenesis imperfecta type 1" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.