PMID: 7544664Jun 1, 1995Paper

Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity

Human Molecular Genetics
D P KelsellN K Spurr

Abstract

The palmoplantar keratodermas (PPK) are a group of skin diseases characterized by thickening of the skin of the palms and soles due to abnormal keratinization. We have performed linkage analysis on families affected with three distinct forms of non-epidermolytic PPK (NEPPK): focal, diffuse and punctate. Genetic heterogeneity was demonstrated, with focal NEPPK linked to the region on chromosome 17 harbouring the type I keratin cluster, diffuse NEPPK linked to the region on chromosome 12 containing the type II keratin cluster, and in the punctate NEPPK pedigrees, linkage was excluded to both of these keratin clusters. This study provides evidence for genetic differences between these forms of NEPPK and also between NEPPK and epidermolytic PPK (EPPK) in which mutations in keratin 9 have been demonstrated.

Citations

Jul 1, 1997·Journal of the American Academy of Dermatology·C M MagroH P Baden
Oct 8, 1999·Journal of Dermatological Science·K TakahashiY Miyachi
Apr 28, 1999·Molecular Medicine Today·D P Kelsell, H P Stevens
Apr 3, 1999·Current Opinion in Oncology·S SabirL M Schuchter
Dec 20, 2003·Journal of Medical Genetics·A Martinez-MirA M Christiano
Jun 1, 1996·Current Opinion in Genetics & Development·E H Epstein
May 14, 2004·The Journal of Investigative Dermatology·Xue-Jun ZhangWei Huang
Jun 1, 1996·Statistical Methods in Medical Research·N J SchorkB Thiel
Dec 9, 1997·The British Journal of Dermatology·R C Ratnavel, W A Griffiths
Jan 1, 1997·Journal of Periodontal Research·T C HartW A Soskolne
Apr 1, 1996·The British Journal of Dermatology·H P StevensM H Rustin
Oct 27, 1997·The Journal of Investigative Dermatology·B P KorgeC S Munro

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