A new lethal brittle bone syndrome with increased amount of type V collagen in a patient.

American Journal of Medical Genetics
J BonaventureP Maroteaux

Abstract

A new lethal brittle bone disease is described in three patients with slender long bones, thin ribs, hypomineralized calvaria, and normal facial appearance. In spite of several limb fractures this syndrome can be differentiated from the lethal forms of osteogenesis imperfecta and is better related to the thin-bone group of lethal dysplasias. Biochemical investigation of collagen from one of the patients by the use of gel electrophoresis and high-pressure liquid chromatography analyses failed to demonstrate any evident defect in the structure of type I collagen chains. Nevertheless collagen extractability from the dermis was altered owing to an increase in the proportion of acid-soluble material. Tritium-proline labeling of cultured fibroblasts confirmed the reduction in total collagen synthesis. This was attributed to a lower type I and type III amount whereas type V collagen level was markedly increased in the cell layer. RNA analysis of the three collagen types with the appropriate cDNA probes confirmed the protein data. Electron microscopic examination of bone and skin showed morphologically abnormal fibroblasts and osteoblasts with an abundant distended rough endoplasmic reticulum and an altered plasma membrane. Unexpected ...Continue Reading

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Citations

Nov 14, 2008·American Journal of Medical Genetics. Part a·Jessica L NyholmBrian C Brost
Jan 1, 1991·Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists·S B MilamB Steffenson
Nov 20, 2020·International Journal of Molecular Sciences·Noriko FunatoKiyoko Ogawa-Goto
May 1, 2021·Experimental Biology and Medicine·Rebecca Siu Ga TanR Todd Alexander

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