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

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

Author information

1
Department of Medicine, Division of Gastroenterology, University Medical Center St. Radboud, 6500 HB Nijmegen, The Netherlands. joostphdrenth@CS.com

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.

PMID:
11283792
PMCID:
PMC1226108
DOI:
10.1086/320107
[Indexed for MEDLINE]
Free PMC Article

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