Identification of a locus on chromosome 1q44 for familial cold urticaria

Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory dis order characterized by intermittent episodes of rash with fever, arthralgia s, conjunctivitis, and leukocytosis. These symptoms develop after generaliz ed exposure to cold. Some individuals with FCU also develop late-onset reac tive renal amyloidosis, which is consistent with Muckle-Wells syndrome. By analyzing individuals with FCU from five families, we identified linkage to chromosome 1q44. Two-point linkage analysis revealed a maximum LOD score ( Z(max)) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint l inkage analysis identified a Z(max) of 10.32 in the same region; and haplot ype analysis defined a 10.5-cM region between markers D1S423 and D1S2682. M uckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus.