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X-Linked Cutis Laxa: Defective Cross-Link Formation in Collagen Due to Decreased Lysyl Oxidase Activity
Abstract
We studied several members of a family with an X-linked form of cutis laxa; the affected males have mild skin laxity, a characteristic facies, skeletal abnormalities, structural abnormalities of the genitourinary tract, and low serum copper levels. The activity of lysyl oxidase, a copper-dependent enzyme involved in cross-link formation in collagen, was decreased in skin-biopsy specimens (13 to 26 per cent of normal) and in culture medium from cells to two affected males (15 to 20 per cent of normal). Immunoreactive lysyl oxidase from skin of both patients was virtually undetectable by immunodiffusion assay. The amounts of lysyl-derived aldehydes (the product formed in collagen and elastin by lysyl oxidase) and of cross-links formed from these products were decreased in dermal fibroblasts in culture. Collagen extractability from these cells was increased in culture. These findings suggest that lysyl oxidase deficiency provides the biochemical basis of the X-linked form of cutis laxa.
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Citations
Cited by
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
Self-citationHeritable Diseases of Collagen
Prockop, D. J., & Kivirikko, K. I. (1984) · New England Journal of Medicine · doi:10.1056/nejm198408093110606 · Cited by 566
Ward, A. J., & Cooper, T. A. (2010) · The Journal of Pathology · doi:10.1002/path.2649 · Cited by 414
Kaler, S. G., Gallo, L. K., Proud, V. K., Percy, A. K., Mark, Y., Segal, N. A., Goldstein, D. S., Holmes, C. S., & Gahl, W. A. (1994) · Nature Genetics · doi:10.1038/ng1094-195 · Cited by 264
Cupo, L. N., Pyeritz, R. E., Olson, J. L., McPhee, S. J., Hutchins, G. M., & McKusick, V. A. (1981) · The American Journal of Medicine · doi:10.1016/0002-9343(81)90341-7 · Cited by 106
Metadata
- Authors
- Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., & Hall, J. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1980-07-10
- Volume
- 303
- Issue
- 2
- Pages
- 61-65
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2329008726
- Cited by
- 206
- References
- 0
- FWCI
- 10.45
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: X-Linked Cutis Laxa: Defective Cross-Link Formation in Collagen Due to Decreased Lysyl Oxidase Activity. https://app.cochat.ai/papers/10.1056/nejm198007103030201
- The paper
- Byers, P. H., Siegel, R. C., Holbrook, K. A., Narayanan, A. S., Bornstein, P., & Hall, J. G. (1980). X-Linked Cutis Laxa: Defective Cross-Link Formation in Collagen Due to Decreased Lysyl Oxidase Activity. New England Journal of Medicine. https://doi.org/10.1056/nejm198007103030201
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
