title: Fine genetic mapping of diffuse non-epidermolytic palmoplantar keratoderma to chromosome 12q11-q13: exclusion of the mapped type II keratins.
abstract: Diffuse non-epidermolytic palmoplantar keratoderma (NEPPK) belongs to the heterogeneous group of skin diseases characterized by thickening of the stratum corneum of the palms and soles (1). This autosomal dominant PPK is characterized by a diffuse pattern of palmar and plantar hyperkeratosis giving the affected areas a thickened yellowish appearance with a marked erythematous edge. Linkage of diffuse NEPPK to chromosome 12q11-q13 has been demonstrated in two independent reports (2, 3). In this study, we describe detailed haplotyping with microsatellite markers mapping to this chromosomal region in three diffuse NEPPK pedigrees from the south of England. Fine mapping of a previously identified recombination event and the identification of a common disease haplotype segregating in the three pedigrees places the diffuse NEPPK locus proximal to the type II keratin gene cluster.
authors.affiliation: Centre for Cutaneous Research, St Bartholomew's and the Royal London Hospital, School of Medicine and Dentistry, London. kelsell@icrf.icnet.uk
authors.forename: D P
authors.initials: DP
authors.lastname: Kelsell
authors.forename: H P
authors.initials: HP
authors.lastname: Stevens
authors.forename: P E
authors.initials: PE
authors.lastname: Purkis
authors.forename: U
authors.initials: U
authors.lastname: Talas
authors.forename: M H
authors.initials: MH
authors.lastname: Rustin
authors.forename: I M
authors.initials: IM
authors.lastname: Leigh
mesh_terms: D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D006239:Haplotypes; D006801:Humans; D007633:Keratins / Q000235:genetics*; D015776:Keratoderma, Palmoplantar, Diffuse / Q000235:genetics* / Q000473:pathology; D008297:Male; D018895:Microsatellite Repeats; D005810:Multigene Family; D010375:Pedigree
chemical_list: D007633:Keratins