Disturbance in the regulation of the type of collagen synthesized in a form of osteogenesis imperfecta.

Fibroblasts derived from skin biopsies of a patient with a congenital defect of connective tissue revealed a disturbance in collagen synthesis. The defect was found in the mechanism that controls the type of collagen synthesized. Biochemical data as well as evaluation of immunofluorescent micrographs using collagen type-specific antibodies, suggested that the fibroblasts of this patient synthesized type III collagen, at a time and rate which was not found in fibroblasts from an age-matched healthy individual.