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

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Title:	The primary erythermalgia-susceptibility gene is located on chromosome 2q31-32.
Author(s):	Drenth, J.P.H. ; Finley, W.H.; Breedveld, G.J.; Testers, L.; Michiels, J.J.M.; Guillet, G.; Taieb, A.; Kirby, R.L.; Heutink, P.
Publication year:	2001
Source:	American Journal of Human Genetics, vol. 68, iss. 5, (2001), pp. 1277-1282
ISSN:	0002-9297
DOI:	https://doi.org/10.1086/320107
Publication type:	Article / Letter to editor
Please use this identifier to cite or link to this item : http://hdl.handle.net/2066/129104
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Subject:	Metabolic aspects of gastrointestinal diseases Metabole aspecten van maag-, darm- en leveraandoeningen
Organization:	Gastroenterology
Journal title:	American Journal of Human Genetics
Volume:	vol. 68
Issue:	iss. 5
Page start:	p. 1277
Page end:	p. 1282
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.