A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations Dörte Koss-Harnes, Bjørn Høyheim,

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A Site-Specific Plectin Mutation Causes Dominant Epidermolysis Bullosa Simplex Ogna: Two Identical De Novo Mutations Dörte Koss-Harnes, Bjørn Høyheim, Ingrun Anton-Lamprecht, Aud. Gjesti, Randi S. Jørgensen, Frode L. Jahnsen, Bjørnar Olaisen, Gerhard Wiche, Tobias Gedde-Dahl Journal of Investigative Dermatology Volume 118, Issue 1, Pages 87-93 (January 2002) DOI: 10.1046/j.0022-202x.2001.01591.x Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Selected branches of the Norwegian EBS-O family EB25 showing individuals providing blood and tissue samples for DNA sequencing, electron microscopy, and immunofluorescence of muscle biopsies. Journal of Investigative Dermatology 2002 118, 87-93DOI: (10.1046/j.0022-202x.2001.01591.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 (a) The German family with a de novo mutation for EBS-O in the plectin gene (PLEC1). The 8q24 haplotypes reveal that the mutation occurred on the paternal allele. The mutant is depicted by an arrow. (b) The EB25 and BED10 mutations. The DNA sequence disclosing C/T heterozygosity in EBS-O patients in both families: (a) Ogna patient EB25-104, (b) healthy control, (c) affected BED10-4, (d, e) unaffected maternal grandparents BED10-7 and BED10-8. Journal of Investigative Dermatology 2002 118, 87-93DOI: (10.1046/j.0022-202x.2001.01591.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Ultrasound of hemidesmosomes and blister formation in EBS Ogna skin. In intact dermo-epidermal junctions (a-c) hemidesmosomes (HD) are mostly thin and frequently have fragmented attachment plates (a, c, arrows), but some reveal clear attachment and inner plates (a).The subbasal dense plates (arrowheads) and anchoring filaments in the lamina rara, the basal lamina (BL), and anchoring fibrils (AF) are normal. In contrast, the insertion of basal keratin filaments (K) into the attachment plates of HD is partly impaired (a-c) or lacking entirely (b), thereby leading to focal mechanical instability and weakness in the deep cytoplasm of basal keratinocytes. (c) Initial blister formation (asterisk) occurs in the deep basal cell cytoplasm immediately above the inner plates of HD. (d) The blister floor (open arrows) of a full-blown fresh blister (asterisk) shows HD and cell debris that are rapidly destroyed so that old blisters may appear “junctional”. C, collagen fibrils. (a) Patient EB25-192; (b, d) patient BED10-4; (c) patient BED10-2. Scale bars: (a–c) 0.5 µm; (d) 1 µm. Journal of Investigative Dermatology 2002 118, 87-93DOI: (10.1046/j.0022-202x.2001.01591.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Immunofluorescence microscopy of skin and muscle. Note the absence of MoAb 5B3 staining of basal keratinocytes in the skin of German patient BED10-1 (arrows in a) whereas staining of the healthy control is normal (b).Also note that the staining pattern of this patient is similar to that published earlier for EBS-O (Koss-Harnes et al, 1997). In (c) and (d) no difference is seen between EBS-O patient EB25-191 (c) and the healthy control (d) upon staining of sections with MoAb 10F6. Note normal staining of Z-line structures in both samples. Scale bars: (a, b) 50 µm; (c, d) 20 µm. Journal of Investigative Dermatology 2002 118, 87-93DOI: (10.1046/j.0022-202x.2001.01591.x) Copyright © 2002 The Society for Investigative Dermatology, Inc Terms and Conditions