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  • Title: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
    Author: Lu Y, Guo C, Liu Q, Zhang X, Cheng L, Li J, Chen B, Gao G, Zhou H, Guo Y, Li Y, Gong Y.
    Journal: Am J Med Genet A; 2003 Jul 30; 120A(3):345-9. PubMed ID: 12838553.
    Abstract:
    Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominantly inherited disease. We studied a family from Shandong, China, having patients suffering from EPPK with a unique symptom-knuckle pads. We noticed that both the hyperkeratosis and knuckle pads in the Chinese family were friction-related. Candidate gene analysis was carried out using linkage analysis and direct sequencing. A novel L160F mutation in keratin 9 was found, and its effects on the secondary structure of keratin 9 were studied. We predict that the L160F mutation is also responsible for the knuckle pads in the family. Our study provides a new clue for the study of the function of keratin 9.
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