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Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.

Authors: Superti-Furga, A  Pistone, F  Romano, C  Steinmann, B 
Citation: Superti-Furga A, etal., J Med Genet 1989 Jun;26(6):358-62.
Pubmed: (View Article at PubMed) PMID:2567784

We report a family in which dominant osteogenesis imperfecta segregates with a COL1A2 haplotype and is associated with a structural defect in the helical region of the type I procollagen molecule. All affected subjects had short stature, dentinogenesis imperfecta, and myopia; however, great differences were observed in the number of fractures and in the degree of bone deformity. Identical biochemical changes were found in the type I collagen molecules synthesised by fibroblasts of subjects with severe or minimal bone fragility. These results confirm that mutations in the triple helical region of alpha 2(I) chains produce a milder phenotype than analogous mutations in the alpha 1(I) chains, but indicate that, in addition to defects in the type I collagen molecule, other factors may modulate the degree of bone involvement in osteogenesis imperfecta.


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RGD Object Information
RGD ID: 734804
Created: 2004-02-03
Species: All species
Last Modified: 2004-02-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.