Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity |
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| Authors: | Kelsell David P; Stevens Howard P; Ratnavel Ravi; Bryant Stephen P; Bishop D Timothy; Leigh Irene M; Spurr Nigel K |
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| Institution: | Human Genetic Resources, Clare Hall Laboratories, Imperial Cancer Research Fund, Blanche Lane, South Mimms, Potters Bar, Herts EN6 3LD
1The Department of Experimental Dermatology, The Royal London Hospital, London
2Imperial Cancer Research Fund, Genetic Epidemiology Laboratory, St James' Hospital, Leeds, UK |
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| Abstract: | The palmoplantar keratodermas (PPK) are a group of skin diseasescharacterized by thickening of the skin of the palms and solesdue to abnormal keratinization. We have performed linkage analysison families affected with three distinct forms of non-epidermolyticPPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneitywas demonstrated, with focal NEPPK linked to the region on chromosome17 harbouring the type I keratin cluster, diffuse NEPPK linkedto the region on chromosome 12 containing the type II keratincluster, and in the punctate NEPPK pedigrees, linkage was excludedto both of these keratin clusters. This study provides evidencefor genetic differences between these forms of NEPPK and alsobetween NEPPK and epidermolytic PPK (EPPK) in which mutationsin keratin 9 have been demonstrated. |
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