A Heritable Disorder of Connective Tissue: Hydroxylysine-Deficient Collagen Disease
Abstract
Two sisters nine and 12 years of age presented with a similar clinical picture consisting of severe scoliosis, recurrent joint dislocation and hyperextensible skin and joints. Amino acid analyses of dermal collagen revealed marked decrease in hydroxylysine content; skin from a clinically normal older sister and from the parents was normal in amino acid content. Collagen fibrils were normal morphologically. Dermal collagen from the affected children was more soluble in denaturing solvents than that derived from controls. Hydroxylysine content was also reduced in lumbodorsal fascia, variably reduced in bone and normal in a single sample of costal cartilage. The defect is probably inherited as an autosomal recessive and due to a deficiency of enzymatic hydroxylation of lysine in collagen, which in turn results in decreased structural integrity of this important protein.
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Kyphoscoliotic EDS was the first inborn error of human collagen metabolism to be defined at the biochemical level, as early as 1972.
“Kyphoscoliotic EDS was the first inborn error of human collagen metabolism to be defined at the biochemical level, as early as 1972.”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Pinnell et al., 1972
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International nosology of heritable disorders of connective tissue, Berlin, 1986
Beighton, P., de Paepe, A., Danks, D., Finidori, G., Gedde‐Dahl, T., Goodman, R., Hall, J. G., Hollister, D. W., Horton, W., McKusick, V. A., et al. (1988) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320290316 · Cited by 732 · see citing works
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Tenascin-X deficiency is associated with Ehlers-Danlos syndrome
Burch, G. H., Gong, Y., Liu, W., Dettman, R. W., Curry, C. J., Smith, L., Miller, W. L., & Bristow, J. (1997) · Nature Genetics · doi:10.1038/ng0997-104 · Cited by 366 · see citing works
The Ehlers–Danlos syndromes, rare types
Brady, A. F., Demirdas, S., Fournel‐Gigleux, S., Ghali, N., Giunta, C., Kapferer‐Seebacher, I., Kosho, T., Mendoza‐Londono, R., Pope, M. F., Rohrbach, M., et al. (2017) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31550 · Cited by 249 · see citing works
Giunta, C., Elçioglu, N. H., Albrecht, B., Eich, G., Chambaz, C., Janecke, A. R., Yeowell, H., Weis, M., Eyre, D. R., Kraenzlin, M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.001 · Cited by 218 · see citing works
Krane, S. M., Pinnell, S. R., & Erbe, R. W. (1972) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.69.10.2899 · Cited by 157 · see citing works
Self-citationVascular aspects of the Ehlers-Danlos Syndromes
Malfait, F. (2018) · Matrix Biology · doi:10.1016/j.matbio.2018.04.013 · Cited by 113 · see citing works
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Sobey, G. (2015) · Archives of Disease in Childhood · doi:10.1136/archdischild-2013-304822 · Cited by 98 · see citing works
Ascorbate action on normal and mutant human lysyl hydroxylases from cultured dermal fibroblasts
Miller, R. L., Elsas, L. J., & Priest, R. E. (1979) · Journal of Investigative Dermatology · doi:10.1111/1523-1747.ep12531702 · Cited by 32 · see citing works
Genetics of the Ehlers–Danlos syndrome: More than collagen disorders
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1022528 · Cited by 4 · see citing works
- Authors
- Pinnell, S. R., Krane, S. M., Kenzora, J. E., & Glimcher, M. J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1972-05-11
- Volume
- 286
- Issue
- 19
- Pages
- 1013-1020
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2321015838
- Cited by
- 414
- References
- 0
- Citations by year
- 2026: 3 · 2025: 3 · 2024: 3 · 2023: 2 · 2022: 2 · 2021: 5 · 2020: 3 · 2019: 3 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 6 · 2014: 2 · 2013: 9 · 2012: 5
- FWCI
- 17.37
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
- Physical Sciences › Materials Science › Biomaterials › Collagen: Extraction and Characterization
- Keywords
- hereditary connective tissue disorders, scoliosis, skin collagen, collagen solubility, autosomal recessive inheritance, children
- MeSH terms
- Amino Acid Metabolism, Inborn Errors, Amino Acids, Bone and Bones, Cartilage, Child, Collagen, Collagen Diseases, Fascia, Female, Humans, Hydroxylation, Hydroxylysine, Hydroxyproline, Lysine, Microscopy, Electron, Pedigree, Scoliosis, Skin, Skin Diseases, Solubility, X-Ray Diffraction
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