title: A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3.
abstract: Disseminated superficial actinic porokeratosis (DSAP) is an uncommon autosomal dominant keratinization disorder with genetic heterogeneity characterized by multiple superficial keratotic lesions surrounded by a slightly raised keratotic border. Thus far, there have been three susceptible loci determined for DSAP and one locus for disseminated superficial porokeratosis (DSP), i.e. 12q23.2-24.1, 15q25.1-26.1, 1p31.3-p31.1 and 18p11.3. Moreover, the locus for porokeratosis palmaris plantaris et disseminata (PPPD) was mapped to 12q24.1-24.2, which overlapped with the first DSAP locus. Following the exclusion of these known loci in a four-generation Chinese DSAP family, we performed a genome-wide linkage analysis and identified a new locus on chromosome 16q24.1-24.3. The maximum two-point LOD score of 3.73 was obtained with the marker D16S3074 at a recombination fraction θ of 0.00. Haplotype analysis defined the critical 17.4-cM region for DSAP between D16S3091 and D16S413. This is regarded to be the forth locus for DSAP (DSAP4). ATP2C1 was sequenced as a candidate gene, however, no mutation was found. Further investigation for the genetic basis of DSAP is under way.
authors.affiliation: Department of Dermatology, Huashan Hospital, Shanghai Medical College, Fudan University, 200040 Shanghai, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Luan
authors.forename: Zhenmin
authors.initials: Z
authors.lastname: Niu
authors.forename: Jing
authors.initials: J
authors.lastname: Zhang
authors.forename: Meredith E
authors.initials: ME
authors.lastname: Crosby
authors.forename: Zhenghua
authors.initials: Z
authors.lastname: Zhang
authors.forename: Xun
authors.initials: X
authors.lastname: Chu
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Wang
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Leihong
authors.initials: L
authors.lastname: Xiang
authors.forename: Zhizhong
authors.initials: Z
authors.lastname: Zheng
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D056426:Genetic Loci; D005819:Genetic Markers; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017499:Porokeratosis / Q000235:genetics*
chemical_list: D005819:Genetic Markers