Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1

Jia Hui Xia*, Yi Feng Yang, Hao Deng, Bei Sha Tang, Dong Sheng Tang, Yun Gui He, Kun Xia, Sheng Xiang Chen, Yi Xiong Li, Qian Pan, Zhi Gao Long, He Ping Dai, Xiao Dong Liao, Jian Feng Xiao, Zhi Ran Liu, Chun Ye Lu, Kuan Ping Yu, Han Xiang Deng

*Corresponding author for this work

Research output: Contribution to journalArticle

66 Scopus citations

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 (θ=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.

Original languageEnglish (US)
Pages (from-to)1071-1074
Number of pages4
JournalJournal of Investigative Dermatology
Volume114
Issue number6
DOIs
StatePublished - Jan 1 2000

Keywords

  • Disseminated superficial actinic porokeratosis
  • Gene mapping
  • Genomewide scan
  • Linkage analysis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

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    Xia, J. H., Yang, Y. F., Deng, H., Tang, B. S., Tang, D. S., He, Y. G., Xia, K., Chen, S. X., Li, Y. X., Pan, Q., Long, Z. G., Dai, H. P., Liao, X. D., Xiao, J. F., Liu, Z. R., Lu, C. Y., Yu, K. P., & Deng, H. X. (2000). Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. Journal of Investigative Dermatology, 114(6), 1071-1074. https://doi.org/10.1046/j.1523-1747.2000.00978.x