A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads
Copyright policy )A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads
AbstractEpidermolytic 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. © 2003 Wiley‐Liss, Inc.
- Shandong Women’s University China (People's Republic of)
- Harvard University United States
Genetic Linkage, Keratoderma, Palmoplantar, DNA Mutational Analysis, Mutation, Humans, Keratins, Sequence Analysis, DNA, Hand Deformities, Congenital, Protein Structure, Secondary
Genetic Linkage, Keratoderma, Palmoplantar, DNA Mutational Analysis, Mutation, Humans, Keratins, Sequence Analysis, DNA, Hand Deformities, Congenital, Protein Structure, Secondary
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