Summary
The parents of a child with the clinical symptoms of Ehlers-Danlos syndrome type VI were identified as third-degree cousins. Biochemical analysis of the dermis of the patient revealed a complete lack of hydroxylysine in the dermal collagen. The dermis of both parents contained only half the amount of hydroxylysine found in healthy individuals. Hydroxylation of prolyl residues was normal in the skin of the patient and his parents. Investigation of the collagen synthesized by fibroblasts derived from the skin of the patient showed a normal proportion of type I and type III collagen. However, while hydroxylation of prolyl residues was normal in type I and type III collagen, hydroxylation of lysyl residues was markedly lower than normal in both type I and type III collagen.
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Bates, C. J., Prynne, C. J., Levene, C. J.: Ascorbate-dependent differences in the hydroxylation of proline and lysine in collagen synthesized by 3T6 fibroblasts in culture. Biochim. Biophys. Acta 278, 610–616 (1972)
Elsas, L. J., Miller, R. L., Pinnell, S. R.: Inherited human collagen lysyl hydroxylase deficiency: ascorbic acid response. J. Pediat. 92, 378–384 (1978)
Gollwitzer, R., Timpl, R., Becker, U., Furthmayr, H.: Chemical and immunochemical properties of reduced and alkylated polypeptide chains of bovine fibrinogen. Eur. J. Biochem. 28, 497–506 (1972)
Krane, S. M., Pinnell, S. R., Erbe, R. W.: Lysyl-protocollagen hydroxylase deficiency in fibroblasts from siblings with hydroxylysine-deficient collagen. Proc. Natl. Acad. Sci. USA 69, 2899–2903 (1972)
Layman, D. L., McGoodwin, E. B., Martin, G. R.: The nature of the collagen synthesized by cultured human fibroblasts. Proc. Natl. Acad. Sci. USA 68, 454–458 (1971)
McKusick, V. A.: The Ehlers-Danlos syndrome. In: Heritable disorders of connective tissue, pp. 292–371. St. Louis: Mosby 1972
Miller, E. J.: Biochemical characteristics and biological significance of genetically distinct collagens. Mol. Cell. Biochem. 13, 165–192 (1976)
Piez, K. A., Eigner, E. A., Lewis, M. S.: Molecular weight determination of random coil polypeptides from collagen by molecular sieve chromatography. Biochemistry 2, 58–66 (1963)
Pinnell, S. R., Krane, S. M., Kenzora, J. E., Glimcher, E. J.: A heritable disorder of connective tissue, hydroxylysine-deficient collagen disease. N. Engl. J. Med. 286, 1013–1020 (1972)
Pontz, B. F., Müller, P. K., Meigel, W. N.: A study on the conversion of procollagen. J. Biol. Chem. 248, 7558–7564 (1973)
Prockop, D. J., Berg, R. A., Kivirikko, K. J., Uitto, J.: Intracellular steps in the biosynthesis of collagen. In: Biochemistry of collagen (G. N. Ramachandran and A. H. Reddi, Eds.), pp. 163–273. New York: Plenum 1976
Quinn, R. S., Krane, S. M.: Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen. J. Clin. Invest. 57, 83–93 (1976)
Steinmann, B., Gitzelmann, R., Vogel, A., Grant, M. E., Harwood, R., Sear, C. H. J.: Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficient in skin. Helv. Paediatr. Acta 30, 255–274 (1975)
Sussman, M., Lichtenstein, J. R., Nigra, T. P., Martin, G. R., McKusick, V. A.: Hydroxylysine-deficient collagen in a patient with a form of the Ehlers-Danlos syndrome. J. Bone Joint Surg. 56A, 1228–1234 (1974)
Tanzer, M. L.: Cross-linking. In: Biochemistry of collagen (G. N. Ramachandran and A. H. Reddi, Eds.), pp. 137–167. New York: Plenum 1976
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Krieg, T., Feldmann, U., Kessler, W. et al. Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant. Hum Genet 46, 41–49 (1979). https://doi.org/10.1007/BF00278900
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DOI: https://doi.org/10.1007/BF00278900