Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds

• Published in: Journal of investigative dermatology Vol. 99; no. 5; pp. 528 - 530
• Main Authors: Gruis, Nelleke A, Bavinck, Jan N Bouwes, Steijlen, Peter M, Van Der Schroeff, Jan G, Van Haeringen, Arie, Happle, Rudolf, Mariman, Edwin, Van Beersum, Sylvia E C, Uitto, Jouni, Vermeer, Bert J, Frants, Rune R
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Danvers, MA Elsevier Inc 01.11.1992; Nature Publishing
• Subjects: Biological and medical sciences; Collagen - genetics; Dermatology; DNA - analysis; Epidermolysis Bullosa Dystrophica - genetics; Female; Genes, Dominant - genetics; Genetic Linkage; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Male; Medical sciences; Netherlands; Nucleic Acid Hybridization; Pedigree; Phenotype; Polymorphism, Restriction Fragment Length; Netherlands; Bullous dermatosis; Human; Skin disease; Linkage; Family study; Exploration; Gene expression; Genetic disease; Gene; Collagen; Genetics; Molecular biology; Dutch; A3-Chromosome; Dystrophic epidermolysis bullosa
• ISSN: 0022-202X; 1523-1747
• DOI: 10.1111/1523-1747.ep12658066

Epidermolysis bullosa is a heterogeneous group of heritable blistering skin diseases affecting epidermis and the dermal-epidermal junction zone. Recently, genetic linkage to the type VII collagen gene (Z = 8.77; < = 0.00) localized on chromosome 3p21 was shown in three Finnish families with the autosomal dominant form of dystrophic epidermolysis bullosa. Two Dutch kindreds with intrafamilial characteristics of both the Cockayne-Touraine type and Bart's syndrome of autosomal dominant dystrophic epidermolysis bullosa have been studied. Two-point linkage analysis in these two families with the COLTA1 marker revealed a combined lod score of Z = 6.08 at θ = 0.00. These data strongly suggest that the type VII collagen gene is the candidate gene iii these Dutch pedigrees. At least two (Cockayne-Touraine and Bart) of the three subtypes of dominant dystrophic epidermolysis bullosa seem to represent different forms of expression of the same gene defect.