Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

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Science  21 Aug 1992:
Vol. 257, Issue 5073, pp. 1128-1130
DOI: 10.1126/science.257.5073.1128


Epidermolytic hyperkeratosis is a hereditary skin disorder characterized by blistering and a marked thickening of the stratum corneum. In one family, affected individuals exhibited a mutation in the highly conserved carboxyl terminal of the rod domain of keratin 1. In two other families, affected individuals had mutations in the highly conserved amino terminal of the rod domain of keratin 10. Structural analysis of these mutations predicts that heterodimer formation would be unaffected, although filament assembly and elongation would be severely compromised. These data imply that an intact keratin intermediate filament network is required for the maintenance of both cellular and tissue integrity.