Article: article d'un périodique ou d'un magazine.
Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.
Journal of Medical Genetics
Date de publication
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.
Adult, Aged, Cells, Cultured, Collagen/genetics, Female, Fibroblasts/metabolism, Genes, Genetic Linkage, Haplotypes, Humans, Infant, Male, Middle Aged, Mutation, Osteogenesis Imperfecta/genetics, Pedigree, Polymorphism, Restriction Fragment Length, Procollagen/biosynthesis, Procollagen/genetics, Reference Values, Skin/metabolism
Web of science
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