Molecular and cytologic studies of Ehlers‐Danlos syndrome type VIII
Open accessAbstract
We present a family with findings of Ehlers‐Danlos syndrome type VIII and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, contractures, and thin hair. To investigate this syndrome, we studied collagen production and the growth properties of cultured fibroblasts taken from affected relatives. We could not find evidence of a collagen defect or premature senescence of cultured fibroblasts, although the fibroblasts may have a decreased growth rate. We conclude that this family has findings of EDS VIII and premature aging and propose that this overlapping phenotype is due to a single pathogenetic mechanism. Our studies of collagen production and fibroblast replication did not discern this mechanism.
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Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R.
“Biochemical analysis of collagen in cultured skin fibroblasts did not show abnormalities in the production and secretion of type I, III, and V collagens in several case reports and also in eight individuals with confirmed mutations in C1S/C1R [Biesecker et al., 1991;Cunniff and Williamson-Kruse, 1995;Kapferer-Seebacher et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Biesecker et al., 1991
Cites
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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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
Kapferer-Seebacher, I., Pepin, M., Werner, R., Aitman, T. J., Nordgren, A., Stoiber, H., Thielens, N., Gaboriaud, C., Amberger, A., Schossig, A., et al. (2016) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2016.08.019 · Cited by 123 · see citing works
- Authors
- Biesecker, L. G., Erickson, R. P., Glover, T. W., & Bonadio, J.
- Affiliations
- University of Michigan (US)
- Howard Hughes Medical Institute (US)
- Corresponding author
- Biesecker, L. G.
- Venue
- American Journal of Medical Genetics
- Publisher
- Wiley
- Published
- 1991-12
- Volume
- 41
- Issue
- 3
- Pages
- 284-288
- ISSN
- 0148-7299 (ISSN-L)
- 1096-8628
- OpenAlex
- W2035292447
- Cited by
- 22
- References
- 1
- Citations by year
- 2024: 1 · 2023: 1 · 2018: 1 · 2017: 2 · 2016: 1 · 2014: 2 · 2013: 2 · 2012: 1
- FWCI
- 0.21
- Type
- journal article
- Language
- en
- Open access
- green
- hdl.handle.net
- Locations
- American Journal of Medical Genetics (publishedVersion)
- PubMed (publishedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- 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
- Health Sciences › Medicine › Pathology and Forensic Medicine › Systemic Sclerosis and Related Diseases
- Keywords
- premature aging, collagen synthesis, fibroblast proliferation, fibroblast senescence, contractures, family studies
- MeSH terms
- Adult, Aging, Biopsy, Ehlers-Danlos Syndrome, Genes, Dominant, Humans, Male, Pedigree, Skin
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