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. 2001 Feb;68(2):485-90.
doi: 10.1086/318203. Epub 2001 Jan 17.

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

A Richards  1 , M R Buddles, R L Donne, B S Kaplan, E Kirk, M C Venning, C L Tielemans, J A Goodship, T H Goodship
Affiliations

Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

A Richards et al. Am J Hum Genet. 2001 Feb.

Abstract

Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.

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Figures

Figure 1
Figure 1
Comparison of CCP19 and 20 wild-type amino acid sequence with the predicted sequence in patient 1 with delA3559. The abnormal amino acids are highlighted. The vertical line indicates the boundary between CCP 19 and 20.
Figure 2
Figure 2
Amino acid sequence of the last two carboxy terminal CCPs for human, mouse, and sand bass FH and for human FHR1, 2, 3, and 4. The degree of homology at the mutation sites for patients 2, 3, 4, and 5 are shown by highlighting.
See this image and copyright information in PMC

References

Electronic-Database Information

    1. Online Mendelian Inheritance in Man (OMIM), http://www.ncbi.nlm.nih.gov/Omim/ (for HUS [MIM 134370]) - PubMed
    1. SWISS-PROT, http://www.ebi.ac.uk/swissprot/ (for human FH, CAA68704; FHR1,CAA39666; FHR2, I37388; FHR3, CAB53064; and FHR4, NP_006675; for mouse FH, M12660; and for sand bass FH, AAA92556)

References

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    1. DiazGuillen MA, Rodriguez de Cordoba S, HeineSuner D (1999) A radiation hybrid map of complement factor H and factor H–related genes. Immunogenetics 49:549–552 - PubMed

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