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Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex by Huber, Marcel; Frenk, Edgar; Hohl, Daniel; Floeth, Michaela; Borradori, Luca; Schäcke, Heike; Rugg, Elizabeth L.; Birgitte Lane, E.; Bruckner-Tuderman, Leena is a Medicine article available to read on EtoBox.
What is Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex about?
BP180/collagen XVII is a hemidesmosomal transmembrane molecule serving as cell-surface receptor. Mutations in its gene cause junctional epidermolysis bullosa. Here, we report a patient with mutations in the gene for BP180/collagen XVII, COL17A1, but predominant phenotypic features of epidermolysis bullosa simplex. At birth, the proband presented with bullous lesions on the trunk, face, and hands. Ultrastructurally, hemidesmosomes were fairly normal, but the attachment of intermediate filaments with the hemidesmosomal plaques appeared to be impaired. Blister formation demonstrated both intraepidermal and junctional cleavage. Immunofluorescence staining with antibodies to keratins, several hemidesmosomal proteins, and the extracellular domain of BP180/collagen XVII showed normal staining patterns, whereas an antibody against the intracellular domain of BP180/collagen XVII yielded a negative immunofluorescence signal. Analysis of BP180/collagen XVII cDNA revealed a 1172 bp deletion corresponding to an in-frame deletion from Ile-18 to Asn-407 from the intracellular domain of the polypeptide. Mutation analysis of the COL17A1 gene disclosed a paternal nonsense mutation, R1226X, and a lar
Who reads Deletion of the Cytoplasmatic Domain of BP180/Collagen XVII Causes a Phenotype with Predominant Features of Epidermolysis Bullosa Simplex?
It is typically read by researchers, students, and practitioners in Medicine.
- Author
- Huber, Marcel; Frenk, Edgar; Hohl, Daniel; Floeth, Michaela; Borradori, Luca; Schäcke, Heike; Rugg, Elizabeth L.; Birgitte Lane, E.; Bruckner-Tuderman, Leena
- Publisher
- Nature Publishing Group; Elsevier ; Elsevier Inc.; Elsevier BV; Springer Science and Business Media LLC; Wiley (ISSN 0022-202X)
- Published
- 2002
- Language
- EN
- Field
- Medicine (Health Sciences)