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

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 lod 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.

• Authors: J M Naeyaert, L Nuytinck, S De Bie, H Beele, A Kint, A De Paepe
• Journal: The Journal of investigative dermatology (J Invest Dermatol) Vol. 104 Issue 5 Pg. 803-5 (May 1995) ISSN: 0022-202X [Print] United States
• PMID: 7738360 (Publication Type: Journal Article)

Chemical References

• Collagen

Topics

• Adult
• Aged
• Alleles
• Child
• Collagen (genetics)
• Epidermolysis Bullosa Dystrophica (genetics)
• Female
• Genes, Dominant
• Genetic Linkage
• Haplotypes
• Humans
• Leg Dermatoses (etiology, genetics)
• Lichenoid Eruptions (etiology, genetics)
• Male
• Middle Aged
• Pedigree
• Phenotype
• Polymorphism, Genetic
• Tibia