title: Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.
abstract: Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.
authors.affiliation: Departments of Dermatology, Wuxi Second Affiliated Hospital of Nanjing Medical University, Wuxi, Jiangsu, China. aypyslm@163.com
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: L J
authors.initials: LJ
authors.lastname: Yang
authors.forename: H-K
authors.initials: HK
authors.lastname: Hua
authors.forename: X-H
authors.initials: XH
authors.lastname: Zhu
authors.forename: X-Y
authors.initials: XY
authors.lastname: Dai
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D053534:Keratin-9 / Q000235:genetics*; D053546:Keratoderma, Palmoplantar, Epidermolytic / Q000235:genetics*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D017422:Sequence Analysis, DNA
chemical_list: D053534:Keratin-9