Identification of a locus on chromosome 1q44 for familial cold urticaria.
Familial cold urticaria (FCU) is a rare autosomal dominant inflammatory disorder characterized by intermittent episodes of rash with fever, arthralgias, conjunctivitis, and leukocytosis. These symptoms develop after generalized exposure to cold. Some individuals with FCU also develop late-onset reactive 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 (Zmax) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint linkage analysis identified a Zmax of 10. 92 in the same region; and haplotype analysis defined a 10.5-cM region between markers D1S423 and D1S2682. Muckle-Wells syndrome was recently linked to chromosome 1q44, which suggests that the two disorders may be linked to the same locus.
Hoffman
H M
HM
Department of Medicine, University of California at San Diego, La Jolla, CA 92093, USA. hahoffman@ucsd.edu.
Wright
F A
FA
Broide
D H
DH
Wanderer
A A
AA
Kolodner
R D
RD
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D000686:Amyloidosis / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D003080:Cold Temperature; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D005819:Genetic Markers / Q000235:genetics; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000150:complications / Q000235:genetics / Q000503:physiopathology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D019683:Penetrance; D012984:Software; D013577:Syndrome; D014581:Urticaria / Q000150:complications / Q000235:genetics* / Q000503:physiopathology
D005819:Genetic Markers