The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.
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.
Department of Medicine, Division of Gastroenterology, University Medical Center St. Radboud, 6500 HB Nijmegen, The Netherlands. joostphdrenth@CS.com
J P
JP
Drenth
W H
WH
Finley
G J
GJ
Breedveld
L
L
Testers
J J
JJ
Michiels
G
G
Guillet
A
A
Taieb
R L
RL
Kirby
P
P
Heutink
D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004916:Erythromelalgia / Q000235:genetics*; D005260:Female; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic / Q000235:genetics; D015203:Reproducibility of Results
D005819:Genetic Markers