The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32

Am J Hum Genet. 2001 May;68(5):1277-82. doi: 10.1086/320107. Epub 2001 Mar 20.


Primary erythermalgia is a rare disorder characterized by recurrent attacks of red, warm, and painful hands and/or feet. The symptoms are generally refractory to treatment and persist throughout life. Five kindreds with multiple cases of primary erythermalgia were identified, and the largest was subjected to a genomewide search. We detected strong evidence for linkage of the primary erythermalgia locus to markers from chromosome 2q. The highest LOD score (Z) was obtained with D2S2330 (Z(max) = 6.51). Analysis of recombination events identified D2S2370 and D2S1776 as flanking markers, on chromosome 2q31-32. This defines a critical interval of 7.94 cM that harbors the primary erythermalgia gene. Affected members within the additional families also shared a common haplotype on chromosome 2q31-32, supporting our linkage results. Identification of the primary erythermalgia gene will allow a better clinical classification of this pleomorphic group of disorders.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 2 / genetics*
  • Erythromelalgia / genetics*
  • Female
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Pedigree
  • Recombination, Genetic / genetics
  • Reproducibility of Results


  • Genetic Markers