Year: 2019
Type: article
Abstract: Type XVII collagen is a type II transmembrane protein present in specialized adhesion structures, the hemidesmosomes, which anchor the intermediate filaments to the cell membrane and to the underlying basement membrane. Mutations in COL17A1, the gene encoding type XVII collagen cause a spectrum of disorders, being associated with junctional epidermolysis bullosa (EB, MIM 226650), amelogenesis imperfecta and epithelial recurrent erosion dystrophy (MIM 122400) (1). The phenotype depends on the type and dosage of the pathogenic variants. Biallelic COL17A1 mutations, which lead to premature termination codons, diminish the adhesive capacity of the hemidesmosomes and lead to generalized skin blistering, extensive wounds, enamel hypoplasia, nail dystrophy and irreversible hair loss in patients with junctional EB generalized intermediate. Genotype–phenotype correlations show that residual amounts of type XVII collagen resulting from in-frame splicing errors, or from the substitution of specific key amino acids, lead to milder clinical manifestations in localized or late-onset junctional EB.
Source: Acta Dermato Venereologica
Authors: J Hoffmann, F Casetti, A Reimer, J Leppert, G Grüninger, C Has
Institutions: University of Freiburg, University Medical Center Freiburg
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $1,725
Funder: Debra International
OpenAlex ID: W2914435468