Imperial College London
Alternate

ProfessorMatthewPickering

Faculty of Medicine, Department of Immunology and Inflammation

Centre Director, Professor of Rheumatology
 
 
 
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Contact

 

matthew.pickering Website

 
 
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Assistant

 

Miss Claudia Rocchi +44 (0)20 3313 2315

 
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Location

 

9N12Commonwealth BuildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Medjeral-Thomas:2014:10.1038/ki.2013.348,
author = {Medjeral-Thomas, N and Malik, TH and Patel, MP and Toth, T and Cook, HT and Tomson, C and Pickering, MC},
doi = {10.1038/ki.2013.348},
journal = {Kidney International},
pages = {933--937},
title = {A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry},
url = {http://dx.doi.org/10.1038/ki.2013.348},
volume = {85},
year = {2014}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - C3 glomerulopathy describes glomerular pathology associated with predominant deposition of complement C3 including dense deposit disease and C3 glomerulonephritis. Familial C3 glomerulonephritis has been associated with rearrangements affecting the complement factor H–related (CFHR) genes. These include a hybrid CFHR3-1 gene and an internal duplication within the CFHR5 gene. CFHR5 nephropathy, to date, occurred exclusively in patients with Cypriot ancestry, and is associated with a heterozygous internal duplication of the CFHR5 gene resulting in duplication of the exons encoding the first two domains of the CFHR5 protein. Affected individuals possess both the wild-type nine-domain CFHR5 protein (CFHR512-9) and an abnormally large mutant CFHR5 protein in which the initial two protein domains are duplicated (CFHR51212-9). We found CFHR51212-9 in association with familial C3 glomerulonephritis in a family without Cypriot ancestry. The genomic rearrangement was distinct from that seen in Cypriot CFHR5 nephropathy. Our findings strengthen the association between CFHR51212-9 and familial C3 glomerulonephritis and recommend screening for CFHR51212-9 in patients with C3 glomerulopathy irrespective of ethnicity. Since CFHR51212-9 can result from at least two genomic rearrangements, screening is most readily achieved through analysis of CFHR5 protein.
AU  - Medjeral-Thomas,N
AU  - Malik,TH
AU  - Patel,MP
AU  - Toth,T
AU  - Cook,HT
AU  - Tomson,C
AU  - Pickering,MC
DO  - 10.1038/ki.2013.348
EP  - 937
PY  - 2014///
SN  - 0085-2538
SP  - 933
TI  - A novel CFHR5 fusion protein causes C3 glomerulopathy in a family without Cypriot ancestry
T2  - Kidney International
UR  - http://dx.doi.org/10.1038/ki.2013.348
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000333746200026&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.sciencedirect.com/science/article/pii/S0085253815562716?via%3Dihub
UR  - http://hdl.handle.net/10044/1/87722
VL  - 85
ER  -
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