title: A novel mutation of keratin 9 in epidermolytic palmoplantar keratoderma combined with knuckle pads.
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.
authors.affiliation: Research Institute of Medical Genetics, School of Medicine, Shandong University, Jinan Shandong, People's Republic of China.
authors.forename: Yong
authors.initials: Y
authors.lastname: Lu
authors.forename: Chenhong
authors.initials: C
authors.lastname: Guo
authors.forename: Qiji
authors.initials: Q
authors.lastname: Liu
authors.forename: Xiyu
authors.initials: X
authors.lastname: Zhang
authors.forename: Lin
authors.initials: L
authors.lastname: Cheng
authors.forename: Jiangxia
authors.initials: J
authors.lastname: Li
authors.forename: Bingxi
authors.initials: B
authors.lastname: Chen
authors.forename: Guimin
authors.initials: G
authors.lastname: Gao
authors.forename: Haibin
authors.initials: H
authors.lastname: Zhou
authors.forename: Yishou
authors.initials: Y
authors.lastname: Guo
authors.forename: Yefu
authors.initials: Y
authors.lastname: Li
authors.forename: Yaoqin
authors.initials: Y
authors.lastname: Gong
mesh_terms: D004252:DNA Mutational Analysis; D008040:Genetic Linkage; D006228:Hand Deformities, Congenital / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007633:Keratins / Q000235:genetics*; D007645:Keratoderma, Palmoplantar / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D017433:Protein Structure, Secondary; D017422:Sequence Analysis, DNA
chemical_list: D007633:Keratins