Abstract
Perinatal lethal 01 is characterized by severe bone fragility with in utero fracture & death in the perinatal period. Fibroblasts from 4 affected infants that we studied failed to secrete type I procollagen normally. In one case a structural mutation in one of the proαl(I) chains of type I procollagen prevents secretion of molecules which contain that chain. The basis of abnormal secretion in the other strains is not yet clear. We have now studied collagen metabolism in cells derived from an affected fetus detected by prenatal ultrasound and x-ray examinations. Amniotic fluid cells & dermal fibroblasts from the affected infant failed to secrete a substantial proportion of the type I procollagen they synthesized during 6, 12 & 18 hour labeling periods while appropriate control cells secrete virtually all the procollagen synthesized in the same periods. Ultrastructural examination of skin from the infant indicated that epidermal structures were normal but that there was a paucity of collagen in the dermis. These studies indicate that the perinatal lethal form of 01 is due to a variety of defects that lead to decreased secretion of type I procollagen. The disorder can be detected prenatally by ultrasound examination & the diagnosis confirmed by x-ray & by study of collagen metabolism in affected cells.
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Byers, P., Barsh, G., Peterson, K. et al. 705 BIOCHEMICAL CHARACTERIZATION OF PERINATAL LETHAL OSTEOGENESIS IMPERFECTA (01) AND ITS PRENATAL DETECTION. Pediatr Res 15 (Suppl 4), 559 (1981). https://doi.org/10.1203/00006450-198104001-00728
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DOI: https://doi.org/10.1203/00006450-198104001-00728