title: Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
abstract: Disseminated superficial actinic porokeratosis is an autosomal dominant cutaneous disorder characterized by many uniformly small, minimal, annular, anhidrotic, and keratotic lesions. The genetic basis for this disease is unknown. Using a genomewide search in a large Chinese family, we identified a locus at chromosome 12q23.2-24. 1 responsible for disseminated superficial actinic porokeratosis. The fine mapping study indicates that the disseminated superficial actinic porokeratosis gene is located within a 9.6 cM region between markers D12S1727 and D12S1605, with a maximum two-point LOD score of 20.53 (theta = 0.00) at D12S78. This is the first locus identified for a genetic disease where the major phenotype is porokeratosis. The study provides a map location for isolation of a gene causing disseminated superficial actinic porokeratosis.
authors.affiliation: National Laboratory of Medical Genetics of China, Department of Neurology, Xiangya Hospital, Hunan Medical University, Changsha, China. nlmglcy@public.cs.hn.cn
authors.forename: J H
authors.initials: JH
authors.lastname: Xia
authors.forename: Y F
authors.initials: YF
authors.lastname: Yang
authors.forename: H
authors.initials: H
authors.lastname: Deng
authors.forename: B S
authors.initials: BS
authors.lastname: Tang
authors.forename: D S
authors.initials: DS
authors.lastname: Tang
authors.forename: Y G
authors.initials: YG
authors.lastname: He
authors.forename: K
authors.initials: K
authors.lastname: Xia
authors.forename: S X
authors.initials: SX
authors.lastname: Chen
authors.forename: Y X
authors.initials: YX
authors.lastname: Li
authors.forename: Q
authors.initials: Q
authors.lastname: Pan
authors.forename: Z G
authors.initials: ZG
authors.lastname: Long
authors.forename: H P
authors.initials: HP
authors.lastname: Dai
authors.forename: X D
authors.initials: XD
authors.lastname: Liao
authors.forename: J F
authors.initials: JF
authors.lastname: Xiao
authors.forename: Z R
authors.initials: ZR
authors.lastname: Liu
authors.forename: C Y
authors.initials: CY
authors.lastname: Lu
authors.forename: K P
authors.initials: KP
authors.lastname: Yu
authors.forename: H X
authors.initials: HX
authors.lastname: Deng
mesh_terms: D002681:China; D002874:Chromosome Mapping; D002881:Chromosomes, Human, Pair 12; D006801:Humans; D008126:Lod Score; D018895:Microsatellite Repeats / Q000235:genetics; D010375:Pedigree; D017499:Porokeratosis / Q000235:genetics*; D011995:Recombination, Genetic