Identification of a Locus on Chromosome 1q44 for Familial Cold Urticaria

• Published in: American journal of human genetics Vol. 66; no. 5; pp. 1693 - 1698
• Main Authors: Hoffman, Hal M., Wright, Fred A., Broide, David H., Wanderer, Alan A., Kolodner, Richard D.
• Format: Journal Article Conference Proceeding
• Language: English
• Published: Chicago, IL Elsevier Inc 01.05.2000; University of Chicago Press
• Subjects: Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Amyloidosis - complications; Amyloidosis - genetics; Amyloidosis - physiopathology; Biological and medical sciences; Child; Child, Preschool; Chromosome 1q44; Chromosome Mapping; Chromosomes, Human, Pair 1 - genetics; Cold hypersensitivity; Cold Temperature; Dermatology; Diseases in Twins - genetics; Familial cold urticaria; Female; Genes, Dominant - genetics; Genetic Markers - genetics; Haplotypes - genetics; Hereditary diseases of the skin. Congenital diseases of the skin. Haemangioma of the skin, of mucosae and of soft tissue; Humans; Infant; Kidney Diseases - complications; Kidney Diseases - genetics; Kidney Diseases - physiopathology; Linkage; Lod Score; Male; Medical sciences; Middle Aged; Muckle-Wells syndrome; Pedigree; Penetrance; Software; Syndrome; Urticaria - complications; Urticaria - genetics; Urticaria - physiopathology; Familial cold urticaria; Cold hypersensitivity; Chromosome 1q44; Linkage; Muckle-Wells syndrome; Genetic mapping; Human; Immunopathology; Skin disease; Urinary system disease; Cold; Family study; Pathogenesis; Urticaria; Diseases of the osteoarticular system; Muckle syndrome; Chromosome A1; Metabolic diseases; Enzymopathy; Genetic determinism; Genetic disease; Phenotype; Gene; ENT disease; Locus
• ISSN: 0002-9297; 1537-6605
• DOI: 10.1086/302874

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 ( Z max) of 8.13 (recombination fraction 0) for marker D1S2836; multipoint linkage analysis identified a Z max 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.