Lethal osteogenesis imperfecta with amniotic band lesions: Collagen studies

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Abstract
An infant was born with osteogenesis imperfecta (OI) and died after 7 days. In addition, there were amniotic constriction bands and amputations of several digits of the upper and lower limbs. The radiologic picture was suggestive of type III OI. Histomorphometric analysis of the bone showed a trabecular bone volume of 15.1% compared to 26.9% for age‐matched controls. This was due to a decreased apposition of matrix by the osteoblasts. Because abnormal collagen synthesis has been suggested as the underlying defect in most forms of OI, collagen studies were undertaken using intact tissues. Bone and skin collagen solubilities were strikingly reduced. Shortened type I collagen molecules, representing 25% of the total type I collagen, were produced by pepsin digestion of the demineralized bone matrix. The molecular weight of the shortened collagen, was 10 kd lower than normal for both the α1 and α2 chains as determined by gel electrophoresis. The bone acetic acid‐soluble collagen showed few shotened α‐chains. Twenty‐five percent of the acid‐soluble bone collagen was cleaved into shortened molecules by a pepsin digestion. The shortened α1 chain was purified by high‐performance liquid chromatography (HPLC).