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Genetic-linkage between the collagen type-VII gene COL7A1 and pretibial epidermolysis bullosa with lichenoid features

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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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Chicago
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.
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.
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.
MLA
Naeyaert, Jean-Marie, Lieve Nuytinck, Sylvia De Bie, et al. “Genetic-linkage Between the Collagen type-VII Gene COL7A1 and Pretibial Epidermolysis Bullosa with Lichenoid Features.” JOURNAL OF INVESTIGATIVE DERMATOLOGY 104.5 (1995): 803–805. Print.
@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, Andr{\'e} and De Paepe, Anne},
  issn         = {0022-202X},
  journal      = {JOURNAL OF INVESTIGATIVE DERMATOLOGY},
  keyword      = {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://dx.doi.org/10.1111/1523-1747.ep12606999},
  volume       = {104},
  year         = {1995},
}

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