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Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5 

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Presentation on theme: "Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5 "— Presentation transcript:

1 Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5  Eli Sprecher, Gil Yosipovitch, Reuven Bergman, Dan Ciubutaro, Margarita Indelman, Ellen Pfendner, Leok C. Goh, Christopher J. Miller, Jouni Uitto, Gabriele Richard  Journal of Investigative Dermatology  Volume 120, Issue 4, Pages (April 2003) DOI: /j x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 A mutation affecting the K1 tail causes atypical EHK. (a) Pedigree of the affected family. The filled symbol indicates the affected individual. (b) Thickened hyperkeratotic plaques with underlying erythema and fissuring on the palms of both hands. (c) Well-demarcated hyperkeratotic plaques with a cobblestone surface pattern over the right knee. Note several islands of superficial peeling (arrows). (d) Diffuse plantar keratoderma with prominent fissuring. (e) Thick, well-demarcated hyperkeratotic plaques with fine scales over the elbows. (f) Histopathologic examination reveals orthokeratotic hyperkeratosis, hypergranulosis, church-spire-like papillomatosis, and areas suggestive of vacuolar degeneration (arrows) (hematoxylin-eosin, 400×). A few binucleated cells are present in the granular layer (insert; 630×). (g) Mutation analysis of the proband reveals a G insertion at nucleotide position 1752 (arrow) in exon 9 of K1 (central panel) compared to the wild-type sequence in the mother (right panel) and father (left panel) of the proband. Sequence chromatograms depict the antisense strand because of the presence of a heterozygous 21bp deletion polymorphism (Korge et al, 1992) upstream of the mutation. (h) Comparison of the amino acid sequence of wild-type (black) and mutant (red) K1 spanning the V2 domain. Numbers denote the amino acid positions. The recurrent glycine loop motifs (Korge et al, 1992) are shown in boxes. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 A mutation affecting the K5 tail causes EBS. (a) Pedigree of the affected family. The filled symbol indicates the affected individual. Mutation 1635delG abolishes a recognition site for the endonuclease BanII. PCR fragments amplified from exon 9 were digested with BanII. A novel 268bp fragment is observed in the affected patient only. (b) Mutation analysis. The proband was found to carry a heterozygous G deletion at position 1635 of KRT5 (upper panel). The wild-type sequence is shown for comparison (lower panel). (c) Comparison of the amino acid sequence of wild-type (black) and mutant (red) K5 spanning part of the V2 domain. Numbers denote amino acid positions. The 1635delG mutation leads to the generation of an aberrant and elongated K5 tail domain. Journal of Investigative Dermatology  , DOI: ( /j x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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