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


ABSTRACT: 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.

SUBMITTER: Drenth JP 

PROVIDER: S-EPMC1226108 | biostudies-literature | 2001 May

REPOSITORIES: biostudies-literature

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

Drenth J P JP   Finley W H WH   Breedveld G J GJ   Testers L L   Michiels J J JJ   Guillet G G   Taieb A A   Kirby R L RL   Heutink P P  

American journal of human genetics 20010320 5


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  ...[more]

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