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. 2020 Feb 12;100(5):5662. doi: 10.2340/00015555-3399

Fig. 3.

Fig. 3

Collagen XVII (COL17) R1303Q mutation induces blistering disease associated with disorganized basement membrane formation. (A) The R1303Q mutation is located within the NC4 domain. (B) A previously reported 32-year-old COL17 R1303Q+/+ patient (28). The arrow indicates a mechanical blister. (C) A disorganized and duplicated basement membrane is a characteristic histopathological feature, which can be detected by anti-type IV collagen antibodies (PHM-12+CIV22). (D) Western blotting using anti-COL17 NC16A antibodies (NC16A-3) on extracellular matrix proteins derived from mal human epidermal keratinocytes (NHEKs) and keratinocytes from a R1303Q+/+ junctional epidermolysis bullosa patient. The arrow indicates that linear IgA bullous disorder (LABD)-97 is absent in R1303Q+/+ keratinocytes, suggesting that the C-terminal cleavage of COL17 is impaired. The figures have been partially modified from previous studies (28). LAD-1: linear IgA dermatosis type 1. Permission given by publisher.