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

J Invest Dermatol. 2000 Jun;114(6):1071-4. doi: 10.1046/j.1523-1747.2000.00978.x.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China
  • Chromosome Mapping
  • Chromosomes, Human, Pair 12
  • Humans
  • Lod Score
  • Microsatellite Repeats / genetics
  • Pedigree
  • Porokeratosis / genetics*
  • Recombination, Genetic