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Lookup NU author(s): Dr Lisa Turnbull, Dr Veronique Fremaux-Bacchi, Professor Tim Goodship
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Mutations in the gene encoding complement factor H (CFH) that alter the C3b/polyanions-binding site in the C-terminal region impair the capacity of factor H to protect host cells. These mutations are also strongly associated with atypical hemolytic uremic syndrome (aHUS). Although most of the aHUS-associated CFH mutations seem "unique" to an individual patient or family, the R1210C mutation has been reported in several unrelated aHUS patients from distinct geographic origins. Five aHUS pedigrees and 7 individual aHUS patients were analyzed to identify potential correlations between the R1210C mutation and clinical phenotype and to characterize the origins of this mutation. The clinical phenotype of aHUS patients carrying the R1210C mutation was heterogeneous. Interestingly, 12 of the 13 affected patients carried at least one additional known genetic risk factor for aHUS. These data are in accord with the 30% penetrance of aHUS in R1210C mutation carriers, as it seems that the presence of other genetic or environmental risk factors significantly contribute to the manifestation and severity of aHUS in these subjects. Genotype analysis of CFH and CFHR3 polymorphisms in the 12 unrelated carriers suggested that the R1210C mutation has a single origin. In conclusion, the R1210C mutation of complement factor H is a prototypical aHUS mutation that is present as a rare polymorphism in geographically separated human populations. Copyright © 2008 by the American Society of Nephrology.
Author(s): Martinez-Barricarte R, Pianetti G, Gautard R, Misselwitz J, Strain L, Frémeaux-Bacchi V, Skerka C, Zipfel PF, Goodship THJ, Noris M, Remuzzi G, De Cordoba SR
Publication type: Article
Publication status: Published
Journal: Journal of the American Society of Nephrology
Year: 2008
Volume: 19
Issue: 3
Pages: 639-646
ISSN (print): 1046-6673
ISSN (electronic): 1533-3450
Publisher: American Society of Nephrology
URL: http://dx.doi.org/10.1681/ASN.2007080923
DOI: 10.1681/ASN.2007080923
PubMed id: 18235085
Notes: On behalf of the European Working Party on the Genetics of HUS
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