[PDF][PDF] The primary erythermalgia–susceptibility gene is located on chromosome 2q31-32

JPH Drenth, WH Finley, GJ Breedveld, L Testers… - The American Journal of …, 2001 - cell.com
JPH Drenth, WH Finley, GJ Breedveld, L Testers, JJ Michiels, G Guillet, A Taieb, RL Kirby
The American Journal of Human Genetics, 2001cell.com
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 …
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 (Zmax = 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.
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