Atypical haemolytic uraemic syndrome associated with a hybrid complement gene

PLoS Medicine

Volumn 3, Issue 10, 2006, Pages 1957-1967

  Venables, Julian P ^a   Strain, Lisa ^b   Routledge, Danny ^b   Bourn, David ^b   Powell, Helen M ^b   Warwicker, Paul ^c   Diaz Torres, Martha L ^a   Sampson, Anne ^d   Mead, Paul ^e   Webb, Michelle ^f   Pirson, Yves ^g   Jackson, Michael S ^a   Hughes, Anne ^h   Wood, Katrina M ^d   Goodship, Judith A ^a   Goodship, Timothy H J ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^c MOUNT VERNON CANCER CENTRE   (United Kingdom)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e Lillyhall Business Centre   (United Kingdom)

^f EAST KENT HOSPITALS UNIVERSITY NHS FOUNDATION TRUST   (United Kingdom)

^g CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^h QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENT; COMPLEMENT FACTOR H; PROSTACYCLIN; PROTEIN COMPLEMENT FACTOR H RELATED 1; PROTEIN COMPLEMENT FACTOR H RELATED 2; PROTEIN COMPLEMENT FACTOR H RELATED 3; PROTEIN COMPLEMENT FACTOR H RELATED 4; PROTEIN COMPLEMENT FACTOR H RELATED 5; UNCLASSIFIED DRUG; CFH CFHL1 PROTEIN, HUMAN; CFH-CFHL1 PROTEIN, HUMAN; CFHR1 PROTEIN, HUMAN; CHIMERIC PROTEIN; COMPLEMENT FACTOR H, HUMAN; COMPLEMENT FACTOR I;

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; CLINICAL ARTICLE; COMPLEMENT ACTIVATION; COMPLEMENT SYSTEM; CONTROLLED STUDY; DNA DETERMINATION; EXON; FEMALE; GENE CLUSTER; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SCREENING; HEMODIALYSIS; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HOMOLOGOUS RECOMBINATION; HUMAN; HYBRID GENE; KIDNEY GRAFT REJECTION; KIDNEY TRANSPLANTATION; MALE; PERITONEAL DIALYSIS; PLASMAPHERESIS; SOUTHERN BLOTTING; DNA SEQUENCE; DNA STRAND BREAKAGE; GENE DOSAGE; GENETICS; METHODOLOGY; MIDDLE AGED; NUCLEIC ACID AMPLIFICATION; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION;

ADULT; AGED, 80 AND OVER; BLOTTING, SOUTHERN; COMPLEMENT C3B INACTIVATOR PROTEINS; COMPLEMENT FACTOR H; COMPLEMENT SYSTEM PROTEINS; DNA BREAKS; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DOSAGE; GENETIC PREDISPOSITION TO DISEASE; HEMOLYTIC-UREMIC SYNDROME; HUMANS; MALE; MIDDLE AGED; MUTANT CHIMERIC PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA;

EID: 33750855444     PISSN: 15491277     EISSN: 15491676     Source Type: Journal    
DOI: 10.1371/journal.pmed.0030431     Document Type: Article

References (21)

1. Warwicker P, Goodship THJ, Donne RL, Pirson Y, Nicholls A, et al. (1998) Genetic studies into inherited and sporadic haemolytic uraemic syndrome. Kidney Int 53: 836-844.
2. Richards A, Kemp EJ, Liszewski MK, Goodship JA, Lampe AK, et al. (2003) Mutations in human complement regulator, membrane cofactor protein (CD46), predispose to development of familial hemolytic uremic syndrome. Proc Natl Acad Sci U S A 100: 12966-12971.
3. Diaz-Guillen MA, Rodriguez de Cordoba S, Heine-Suner D (1999) A radiation hybrid map of complement factor H and factor H-related genes. Immunogenetics 49: 549-552.
4. Male DA, Ormsby RJ, Ranganathan S, Giannakis E, Gordon, et al. (2000) Complement factor H: Sequence analysis of 221 kb of human genomic DNA containing the entire fH, fHR-1 and fHR-3 genes. Mol Immunol 37: 41-52.
5. Zipfel PF, Jokiranta TS, Hellwage J, Koistinen V, Meri S (1999) The factor H protein family. Immunopharmacology 42: 53-60.
6. Richards A, Buddles MR, Donne RL, Kaplan BS, Kirk E, et al. (2001) Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition. Am J Hum Genet 68: 485-490.
7. Perez-Caballero D, Gonzalez-Rubio C, Gallardo ME, Vera M, Lopez-Trascasa M, et al. (2001) Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome. Am J Hum Genet 68: 478-484.
8. Caprioli J, Bettinaglio P, Zipfel PF, Amadei B, Daina E, et al. (2001) The molecular basis of familial hemolytic uremic syndrome: Mutation analysis of factor H gene reveals a hot spot in short consensus repeat 20. J Am Soc Nephrol 12: 297-307.
9. Neumann HP, Salzmann M, Bohnert-Iwan B, Mannuelian T, Skerka C, et al. (2003) Haemolytic uraemic syndrome and mutations of the factor H gene: A registry-based study of German speaking countries. J Med Genet 40: 676-681.
10. Heinen S, Sanchez-Corral P, Jackson MS, Strain L, Goodship JA, et al. (2006) De novo gene conversion in the RCA gene cluster (1q32) causes mutations in complement factor H associated with atypical hemolytic uremic syndrome. Hum Mut 27: 292-293.
11. Lupski JR, Stankiewicz P (2005) Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1: e49.
12. Feifel E, Prodinger WM, Molgg M, Schwaeble W, Schonitzer D, et al. (1992) Polymorphism and deficiency of human factor H-related proteins p39 and p37. Immunogenetics 36: 104-109.
13. Farr MJ, Roberts S, Morley AR, Dewar PJ, Roberts DF, et al. (1975) The haemolytic uraemic syndrome - A family study. Q J Med 44: 161-188.
14. Rodriguez de Cordoba S, Esparza-Gordillo J, Goicoechea de Jorge E, Lopez-Trascasa M, Sanchez-Corral P (2004) The human complement factor H: Functional roles, genetic variations and disease associations. Mol Immunol 41: 355-367.
15. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F, et al. (2002) Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 30: e57.
16. Bresin E, Daina E, Noris M, Castelletti F, Stefanov R, et al. (2006) Outcome of renal transplantation in patients with non-shiga toxin-associated hemolytic uremic syndrome: Prognostic significance of genetic background. Clin J Am Soc Nephrol 1: 88-99.
17. Edwards AO, Ritter R 3rd, Abel KJ, Manning A, Panhuysen C, et al. (2005) Complement factor H polymorphism and age-related macular degeneration. Science 308: 421-424.
18. Haines JL, Hauser MA, Schmidt S, Scott WK, Olson LM, et al. (2005) Complement factor H variant increases the risk of age-related macular degeneration. Science 308: 419-421.
19. Klein RJ, Zeiss C, Chew EY, Tsai JY, Sackler RS, et al. (2005) Complement factor H polymorphism in age-related macular degeneration. Science 308: 385-389.
20. Hageman GS, Anderson DH, Johnson LV, Hancox LS, Taiber AJ, et al. (2005) A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A 102: 7227-7232.
21. Abrera-Abeleda MA, Nishimura C, Smith JL, Sethi S, McRae JL, et al. (2006) Variations in the complement regulatory genes factor H (CFH) and factor H related 5 (CFHR5) are associated with membranoproliferative glomerulonephritis type II (dense deposit disease). J Med Genet 43: 582-589.