Genotype/phenotype correlations in complement factor H deficiency arising from uniparental isodisomy

American Journal of Kidney Diseases

Volumn 62, Issue 5, 2013, Pages 978-983

  Wilson, Valerie ^a   Darlay, Rebecca ^b   Wong, William ^c   Wood, Katrina M ^d   McFarlane, Jeannette ^c   Schejbel, Lone ^e   Schmidt, Ida M ^e   Harris, Claire L ^f   Tellez, James ^a   Hunze, Eva Maria ^b   Marchbank, Kevin ^b   Goodship, Judith A ^b   Goodship, Timothy H J ^b  

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

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c STARSHIP CHILDREN S HOSPITAL   (New Zealand)

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

^e University of Copenhagen   (Denmark)

^f CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

Author keywords

Complement; glomerulonephritis; hemolytic uremic syndrome

Indexed keywords

BICARBONATE; COMPLEMENT FACTOR H; CREATININE; FRESH FROZEN PLASMA; HAPTOGLOBIN; HEMOGLOBIN; IMMUNOGLOBULIN A; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; LACTATE DEHYDROGENASE; MEMBRANE COFACTOR PROTEIN; POTASSIUM;

ARTICLE; BASEMENT MEMBRANE; BLOOD PRESSURE; CASE REPORT; CFH GENE; CHROMOSOME 1; COMPLEMENT DEFICIENCY; CREATININE BLOOD LEVEL; CREATININE URINE LEVEL; ERYTHROCYTE; GENE; GENE MUTATION; GENETIC LINKAGE; GENETIC RISK; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; GLOMERULONEPHRITIS; GLOMERULUS CAPILLARY; HAPLOTYPE; HEMOLYTIC UREMIC SYNDROME; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE MICROSCOPY; INFANT; INTERSTITIUM; KIDNEY BIOPSY; KIDNEY HYPERTROPHY; MALE; MESANGIUM CELL; NUCLEOTIDE SEQUENCE; NUTRITIONAL SUPPORT; PERIORBITAL EDEMA; PERITONEAL DIALYSIS; PLASMA TRANSFUSION; PLASMAPHERESIS; PROTEIN URINE LEVEL; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE COUNT; ULTRASOUND; UNIPARENTAL DISOMY; URINALYSIS;

EID: 84886716523     PISSN: 02726386     EISSN: 15236838     Source Type: Journal    
DOI: 10.1053/j.ajkd.2013.05.020     Document Type: Article

References (22)

1. M. Noris, G. Remuzzi Atypical hemolytic-uremic syndrome N Engl J Med 361 17 2009 1676 1687
2. S. Rodriguez de Cordoba aHUS: a disorder with many risk factors Blood 115 2 2010 158 160
3. A. Servais, L.H. Noel, L.T. Roumenina Acquired and genetic complement abnormalities play a critical role in dense deposit disease and other C3 glomerulopathies Kidney Int 82 4 2012 454 464
4. M.C. Pickering, H.T. Cook Translational mini-review series on complement factor H: renal diseases associated with complement factor H: novel insights from humans and animals Clin Exp Immunol 151 2 2008 210 230
5. E. Engel A new genetic concept: uniparental disomy and its potential effect, isodisomy Am J Med Genet 6 2 1980 137 143
6. K. Yamazawa, T. Ogata, A.C. Ferguson-Smith Uniparental disomy and human disease: an overview Am J Med Genet Part C Semin Med Genet 154C 3 2010 329 334
7. V. Fremeaux-Bacchi, D. Sanlaville, S. Menouer Unusual clinical severity of complement membrane cofactor protein-associated hemolytic-uremic syndrome and uniparental isodisomy Am J Kidney Dis 49 2 2007 323 329
8. L. Schejbel, I.M. Schmidt, M. Kirchhoff Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation Genes Immun 12 2 2011 90 99
9. I. Moore, L. Strain, I. Pappworth Association of factor H autoantibodies with deletions of CFHR1, CFHR3, CFHR4 and with mutations in CFH, CFI, CD46, and C3 in patients with atypical haemolytic uraemic syndrome Blood 115 2 2010 379 387
10. J.P. Schouten, C.J. McElgunn, R. Waaijer, D. Zwijnenburg, F. Diepvens, G. Pals Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification Nucleic Acids Res 30 12 2002 e57
11. S. Purcell, B. Neale, K. Todd-Brown PLINK: a tool set for whole-genome association and population-based linkage analyses Am J Hum Genet 81 3 2007 559 575
12. S. Purcell, B. Neale, K. Todd-Brown et al. PLINK: a toolset for whole-genome association and population-based linkage analysis Am J Hum Genet 81 2007 PLINK software. Version 1.05 http://pngu.mgh.harvard.edu/∼purcell/ plink/ Accessed June 7, 2013
13. S. Hakobyan, A. Tortajada, C.L. Harris, S. Rodriguez de Cordoba, B.P. Morgan Variant-specific quantification of factor H in plasma identifies null alleles associated with atypical hemolytic uremic syndrome Kidney Int 78 8 2010 782 788
14. N.J. Francis, B. McNicholas, A. Awan A novel hybrid CFH/CFHR3 gene generated by a microhomology-mediated deletion in familial atypical hemolytic uremic syndrome Blood 119 2 2012 591 601
15. G.J. Schwartz, A. Munoz, M.F. Schneider New equations to estimate GFR in children with CKD J Am Soc Nephrol 20 3 2009 629 637
16. L. Ermini, T.H.J. Goodship, L. Strain Common genetic variants in complement genes other than CFH, CD46 and the CFHRs are not associated with aHUS Mol Immunol 49 4 2012 640 648
17. J. Esparza-Gordillo, J.E. Goicoechea de, A. Buil Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32 Hum Mol Genet 14 5 2005 703 712
18. C. Abarrategui-Garrido, R. Martinez-Barricarte, M. Lopez-Trascasa, S.R. de Cordoba, P. Sanchez-Corral Characterization of complement factor H-related (CFHR) proteins in plasma reveals novel genetic variations of CFHR1 associated with atypical hemolytic uremic syndrome Blood 114 19 2009 4261 4271
19. M. Heurich, R. Martinez-Barricarte, N.J. Francis Common polymorphisms in C3, factor B, and factor H collaborate to determine systemic complement activity and disease risk Proc Natl Acad Sci U S A 108 21 2011 8761 8766
20. P.F. Zipfel, C. Skerka FHL-1/reconectin: a human complement and immune regulator with cell-adhesive function Immunol Today 20 1999 135 140
21. F. Fakhouri, L. Roumenina, F. Provot Pregnancy-associated hemolytic uremic syndrome revisited in the era of complement gene mutations J Am Soc Nephrol 21 5 2010 859 867
22. R. Martinez-Barricarte, G. Pianetti, R. Gautard The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome J Am Soc Nephrol 19 3 2008 639 646