The diagnosis is easy when a patient has blue sclerae and a parent with similar eyes. But sometimes the bone disease in the parent can be mild, and sometimes the mutation started with an individual patient. In these cases the collagen production from skin can be measured. Soon it will be possible to check an individual's DNA to see if there is a mutation in the collagen gene.
One kind of skin cell (the fibroblast) also makes type I collagen. A small skin biopsy can be cultured, and the collagen made by the fibroblast is characterized. Patients with osteogenesis imperfecta may have abnormal collagen, or they make make smaller amounts of collagen than normal persons.
Image of gel from collagen studies awaiting permission
Osteogenesis imperfecta was one of the first hereditary disease that was artifically created in mice by the technique of replacing a gene inside the cells of an embryo.
. . . with hope for the future.
Osteogenesis Imperfecta Foundation
Chamberlain, J. R.(2004). Gene targeting in stem cells from individuals with osteogenesis imperfecta. Science 303: 1198-201.
Pace, J. M.(2001). Deletions and duplications of Gly-Xaa-Yaa triplet repeats in the triple helical domains of type I collagen chains disrupt helix formation and result in several types of osteogenesis imperfecta. Hum Mutat 18: 319-26.
Byers, P. H.(2000). Osteogenesis imperfecta: perspectives and opportunities. Curr Opin Pediatr 12: 603-9.
Prockop, D. J.(2004). Targeting gene therapy for osteogenesis imperfecta. N Engl J Med 350: 2302-4.
Bonadio, J.(1990). Transgenic mouse model of the mild dominant form of osteogenesis imperfecta. Proc Natl Acad Sci U S A 87: 7145-9.
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