Skip to main content
PMC home page
American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 2000 Mar 30;66(5):1693–1698. doi: 10.1086/302874

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

H M Hoffman 1, F A Wright 1, D H Broide 1, A A Wanderer 1, R D Kolodner 1
PMCID: PMC1378006  PMID: 10741953

Abstract

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.

Full Text

The Full Text of this article is available as a PDF (228.8 KB).

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Castelain P. Y. Urticaire familiale au froid. Bull Soc Fr Dermatol Syphiligr. 1971;78(5):525–526. [PubMed] [Google Scholar]
  2. Commerford P. J., Meyers O. L. Arthropathy associated with familial cold urticaria. S Afr Med J. 1977 Jan 22;51(4):105–108. [PubMed] [Google Scholar]
  3. Conneally P. M., Edwards J. H., Kidd K. K., Lalouel J. M., Morton N. E., Ott J., White R. Report of the Committee on Methods of Linkage Analysis and Reporting. Cytogenet Cell Genet. 1985;40(1-4):356–359. doi: 10.1159/000132186. [DOI] [PubMed] [Google Scholar]
  4. Cuisset L., Drenth J. P., Berthelot J. M., Meyrier A., Vaudour G., Watts R. A., Scott D. G., Nicholls A., Pavek S., Vasseur C. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet. 1999 Oct;65(4):1054–1059. doi: 10.1086/302589. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Derbes V. J., Coleman W. P. Familial cold urticaria. Ann Allergy. 1972 Jun;30(6):335–341. [PubMed] [Google Scholar]
  6. Doeglas H. M., Bleumink E. Familial cold urticaria. Clinical findings. Arch Dermatol. 1974 Sep;110(3):382–388. [PubMed] [Google Scholar]
  7. Doeglas H. M. Familial cold urticaria. Arch Dermatol. 1973 Jan;107(1):136–137. [PubMed] [Google Scholar]
  8. Fordyce A. M., Coulson I. H. Familial cold urticaria--a rare cause of lip swelling. Br Dent J. 1993 Dec 11;175(11-12):417–418. doi: 10.1038/sj.bdj.4808345. [DOI] [PubMed] [Google Scholar]
  9. Gerbig A. W., Dahinden C. A., Mullis P., Hunziker T. Circadian elevation of IL-6 levels in Muckle-Wells syndrome: a disorder of the neuro-immune axis? QJM. 1998 Jul;91(7):489–492. doi: 10.1093/qjmed/91.7.489. [DOI] [PubMed] [Google Scholar]
  10. Grateau G., Drenth J. P., Delpech M. Hereditary fevers. Curr Opin Rheumatol. 1999 Jan;11(1):75–78. doi: 10.1097/00002281-199901000-00013. [DOI] [PubMed] [Google Scholar]
  11. Irwin M., Cox N., Kong A. Sequential imputation for multilocus linkage analysis. Proc Natl Acad Sci U S A. 1994 Nov 22;91(24):11684–11688. doi: 10.1073/pnas.91.24.11684. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Kalogeromitros D., Katsarou A., Armenaka M., Polizou E., Zografakis I., Stratigos I. Familial cold urticaria: a father and daughter with typical clinical and laboratory features. Ann Allergy Asthma Immunol. 1995 Apr;74(4):295–298. [PubMed] [Google Scholar]
  13. Kruglyak L., Daly M. J., Reeve-Daly M. P., Lander E. S. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet. 1996 Jun;58(6):1347–1363. [PMC free article] [PubMed] [Google Scholar]
  14. Lathrop G. M., Lalouel J. M., Julier C., Ott J. Strategies for multilocus linkage analysis in humans. Proc Natl Acad Sci U S A. 1984 Jun;81(11):3443–3446. doi: 10.1073/pnas.81.11.3443. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. Martin S., Eastern J., Knox J. M. Familial polymorphous cold eruption. Cutis. 1981 Feb;27(2):173–175. [PubMed] [Google Scholar]
  16. Muckle T. J. The 'Muckle-Wells' syndrome. Br J Dermatol. 1979 Jan;100(1):87–92. doi: 10.1111/j.1365-2133.1979.tb03572.x. [DOI] [PubMed] [Google Scholar]
  17. Ormerod A. D., Smart L., Reid T. M., Milford-Ward A. Familial cold urticaria. Investigation of a family and response to stanozolol. Arch Dermatol. 1993 Mar;129(3):343–346. doi: 10.1001/archderm.129.3.343. [DOI] [PubMed] [Google Scholar]
  18. Roux H., Gaborit P., Chabrier P., Sayag J., Weiller M. Urticaire familiale au froid. A propos d'un cas. Rev Rhum Mal Osteoartic. 1982 Feb;49(2):131–135. [PubMed] [Google Scholar]
  19. Shepard M. K. Cold hypersensitivity. Birth Defects Orig Artic Ser. 1971 Jun;7(8):352–352. [PubMed] [Google Scholar]
  20. Urano Y., Shikiji T., Sasaki S., Fukuhara K., Arase S. An unusual reaction to cold: a sporadic case of familial polymorphous cold eruption? Br J Dermatol. 1998 Sep;139(3):504–507. doi: 10.1046/j.1365-2133.1998.02419.x. [DOI] [PubMed] [Google Scholar]
  21. Vlagopoulos T., Townley R., Villacorte G. Familial cold urticaria. Ann Allergy. 1975 Jun;34(6):366–369. [PubMed] [Google Scholar]
  22. Wanderer A. A. An 'allergy' to cold. Hosp Pract. 1979 Jun;14(6):136–137. doi: 10.1080/21548331.1979.11707566. [DOI] [PubMed] [Google Scholar]
  23. Zip C. M., Ross J. B., Greaves M. W., Scriver C. R., Mitchell J. J., Zoar S. Familial cold urticaria. Clin Exp Dermatol. 1993 Jul;18(4):338–341. doi: 10.1111/j.1365-2230.1993.tb02212.x. [DOI] [PubMed] [Google Scholar]

Articles from American Journal of Human Genetics are provided here courtesy of American Society of Human Genetics

RESOURCES