A novel locus for disseminated superficial actinic porokeratosis maps to chromosome 16q24.1-24.3

Human Genetics

Volumn 129, Issue 3, 2011, Pages 329-334

  Luan, Jing ^a   Niu, Zhenmin ^b   Zhang, Jing ^b   Crosby, Meredith E ^c   Zhang, Zhenghua ^a,b   Chu, Xun ^b   Wang, Zhimin ^b   Huang, Wei ^b   Xiang, Leihong ^a   Zheng, Zhizhong ^a  

^a FUDAN UNIVERSITY   (China)

^b CHINESE NATIONAL HUMAN GENOME CENTER AT SHANGHAI   (China)

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACTINIC POROKERATOSIS; ADULT; ARTICLE; ATP2C1; CHINESE; CHROMOSOME 16Q; CLINICAL ARTICLE; DISSEMINATED SUPERFICIAL ACTINIC POROKERATOSIS; FEMALE; GENE; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC IDENTIFICATION; HAPLOTYPE; HUMAN; LINKAGE ANALYSIS; MALE; PAPULE; PRIORITY JOURNAL; SKIN ATROPHY;

ASIAN CONTINENTAL ANCESTRY GROUP; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 16; FEMALE; GENETIC LINKAGE; GENETIC LOCI; GENETIC MARKERS; HAPLOTYPES; HUMANS; LOD SCORE; MALE; MOLECULAR SEQUENCE DATA; MUTATION; POROKERATOSIS;

EID: 79953749690     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0929-x     Document Type: Article

References (16)

1. Anderson DE, Chernosky ME (1969) Disseminated superficial actinic porokeratosis. Genetic aspects. Arch Derm 99:408-412
2. Chernosky ME, Freeman RG (1967) Disseminated superficial actinic porokeratosis (DSAP). Arch Dermatol 96:611-624
3. Dover JS, Phillips TJ, Burns DA, Krafchik BR (1986) Disseminated superficial actinic porokeratosis. Coexistence with other porokeratotic variants. Arch Dermatol 122:887-889
4. Freyschmidt-Paul P, Hoffmann R, Konig A, Happer R (1999) Linear porokeratosis superimposed on disseminated superficial actinic porokeratosis: report of two cases exemplifying the concept of type 2 segmental manifestation of autosomal dominant skin disorders. J Am Acad Dermatol 41:644-647 (Pubitemid 29480418)
5. Happer R (1997) Cancer proneness of linear porokeratosis may be explained by allelic loss. Dermatology 195:20-25
6. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr (2000) Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 24:61-65 (Pubitemid 30041422)
7. Liu P, Zhang S, Yao Q, Liu X, Wang X, Huang C, Huang X, Wang P, Yuan M, Liu JY, Wang QK, Liu M (2008) Identification of a genetic locus for autosomal dominant disseminated superficial actinic porokeratosis on chromosome 1p31.3-p31.1. Hum Genet 123:507-513
8. Murata Y, Kumano T, Takai T (2001) Type 2 segmental manifestation of disseminated superficial porokeratosis showing a systematized pattern of involvement and pronounced cancer proneness. Eur J Dermatol 11:191-194 (Pubitemid 32472667)
9. Nickerson DA, Tobe VO, Taylor SL (1997) PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing. Nucleic Acids Res 25:2745-2751 (Pubitemid 27299787)
10. Sakuntabhai A, Ruiz-Perez V, Carter S, Jacobsen N, Burge S, Monk S, Smith M, Munro CS, O'Donovan M, Craddock N, Kucherlapati R, Rees JL, Owen M, Lathrop GM, Monaco AP, Strachan T, Hovnanian A (1999) Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet 21:271-277 (Pubitemid 29124933)
11. Schamroth JM, Zlotogorski A, Gilead L (1997) Porokeratosis of Mibelli: overview and review of literature. Acta Derm Venerol (Stockh) 77:207-213
12. Wei SC, Yang S, Li M, Song YX, Zhang XQ, Bu L, Zheng GY, Kong XY, Zhang XJ (2003) Identification of a locus for porokeratosis palmaris et plantaris disseminata to a 6.9-cM region at chromosome 12q24.1-24.2. Br J Dermatol 149:261-267 (Pubitemid 37100250)
13. Wei S, Yang S, Lin D, Li M, Zhang X, Bu L, Zheng G, Hu L, Kong X, Zhang X (2004) A novel locus for disseminated superficial porokeratosis maps to chromosome 18p11.3. J Invest Dermatol 123:872-875 (Pubitemid 39391931)
14. Xia JH, Yang YF, Deng H, Tang BS, Tang DS, He YG, Xia K, Chen SX, Li YX, Pan Q, Long ZG, Dai HP, Liao XD, Xiao JF, Liu ZR, Lu CY, Yu KP, Deng HX (2000) Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. J Invest Dermatol 114:1071-1074 (Pubitemid 30415220)
15. Xia K, Deng H, Xia JH, Zheng D, Zhang HL, Lu CY, Li CQ, Pan Q, Dai HP, Yang YF, Long ZG, Deng HX (2002) A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1. Br J Dermatol 147:650-654 (Pubitemid 35286147)
16. Zhang ZH, Niu ZM, Yuan WT, Zhao JJ, Jiang FX, Zhang J, Chai B, Cui F, Chen W, Lian CH, Xiang LH, Xu SJ, Liu WD, Zheng ZZ, Huang W (2005) A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. Br J Dermatol 152:658-663 (Pubitemid 40571296)