Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features
- Author
- Jean-Marie Naeyaert, Lieve Nuytinck (UGent) , Sylvia De Bie (UGent) , Hilde Beele (UGent) , André Kint and Anne De Paepe (UGent)
- Organization
- Abstract
- Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1. was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a led score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.
- Keywords
- ANCHORING FIBRILS, FAMILIES
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-193583
- MLA
- Naeyaert, Jean-Marie, et al. “Genetic-Linkage between the Collagen Type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol. 104, no. 5, 1995, pp. 803–05, doi:10.1111/1523-1747.ep12606999.
- APA
- Naeyaert, J.-M., Nuytinck, L., De Bie, S., Beele, H., Kint, A., & De Paepe, A. (1995). Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. JOURNAL OF INVESTIGATIVE DERMATOLOGY, 104(5), 803–805. https://doi.org/10.1111/1523-1747.ep12606999
- Chicago author-date
- Naeyaert, Jean-Marie, Lieve Nuytinck, Sylvia De Bie, Hilde Beele, André Kint, and Anne De Paepe. 1995. “Genetic-Linkage between the Collagen Type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (5): 803–5. https://doi.org/10.1111/1523-1747.ep12606999.
- Chicago author-date (all authors)
- Naeyaert, Jean-Marie, Lieve Nuytinck, Sylvia De Bie, Hilde Beele, André Kint, and Anne De Paepe. 1995. “Genetic-Linkage between the Collagen Type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” JOURNAL OF INVESTIGATIVE DERMATOLOGY 104 (5): 803–805. doi:10.1111/1523-1747.ep12606999.
- Vancouver
- 1.Naeyaert J-M, Nuytinck L, De Bie S, Beele H, Kint A, De Paepe A. Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features. JOURNAL OF INVESTIGATIVE DERMATOLOGY. 1995;104(5):803–5.
- IEEE
- [1]J.-M. Naeyaert, L. Nuytinck, S. De Bie, H. Beele, A. Kint, and A. De Paepe, “Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features,” JOURNAL OF INVESTIGATIVE DERMATOLOGY, vol. 104, no. 5, pp. 803–805, 1995.
@article{193583,
abstract = {{Pretibial epidermolysis bullosa is a rare form of dominant dystrophic epidermolysis bullosa. The disease was diagnosed after considerable delay in a large Belgian family and was remarkable for its late age at onset and its misleading clinical presentation in the proband, which strongly resembled keratosis lichenoides chronica. Both recessively and dominantly inherited forms of dystrophic epidermolysis bullosa have been shown to be linked to the collagen type VII gene, COL7A1. Two-point linkage analysis with two intragenic polymorphisms (PvuII, AluI) in COL7A1. was performed. Strong genetic linkage between the disease in this family and COL7A1 was demonstrated by a led score of 4.45 (theta = 0) for the AluI polymorphism. The observed intrafamilial variability of clinical phenotypes contradicts the presently proposed classification of dominantly inherited dystrophic epidermolysis bullosa.}},
author = {{Naeyaert, Jean-Marie and Nuytinck, Lieve and De Bie, Sylvia and Beele, Hilde and Kint, André and De Paepe, Anne}},
issn = {{0022-202X}},
journal = {{JOURNAL OF INVESTIGATIVE DERMATOLOGY}},
keywords = {{ANCHORING FIBRILS,FAMILIES}},
language = {{eng}},
number = {{5}},
pages = {{803--805}},
title = {{Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features}},
url = {{http://doi.org/10.1111/1523-1747.ep12606999}},
volume = {{104}},
year = {{1995}},
}
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