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A de novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H/complement factor H-related 3 gene in atypical hemolytic uremic syndrome

Challis, R. C., Araujo, G. S. R., Wong, E. K. S., Anderson, H. E., Awan, A., Dorman, A. M., Waldron, M., Wilson, V., Brocklebank, V., Strain, L., Morgan, Bryan, Harris, Claire, Marchbank, K. J., Goodship, T. H. J. and Kavanagh, D. 2016. A de novo deletion in the regulators of complement activation cluster producing a hybrid complement factor H/complement factor H-related 3 gene in atypical hemolytic uremic syndrome. Journal of the American Society of Nephrology 27 (6) , pp. 1617-1624. 10.1681/ASN.2015010100

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Abstract

The regulators of complement activation cluster at chromosome 1q32 contains the complement factor H (CFH) and five complement factor H–related (CFHR) genes. This area of the genome arose from several large genomic duplications, and these low-copy repeats can cause genome instability in this region. Genomic disorders affecting these genes have been described in atypical hemolytic uremic syndrome, arising commonly through nonallelic homologous recombination. We describe a novel CFH/CFHR3 hybrid gene secondary to a de novo 6.3-kb deletion that arose through microhomology–mediated end joining rather than nonallelic homologous recombination. We confirmed a transcript from this hybrid gene and showed a secreted protein product that lacks the recognition domain of factor H and exhibits impaired cell surface complement regulation. The fact that the formation of this hybrid gene arose as a de novo event suggests that this cluster is a dynamic area of the genome in which additional genomic disorders may arise.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Uncontrolled Keywords: complement; hemolytic uremic syndrome; genetic renal disease
Publisher: Lippincott, Williams & Wilkins
ISSN: 1046-6673
Date of Acceptance: 7 September 2015
Last Modified: 14 Jun 2019 12:54
URI: http://orca-mwe.cf.ac.uk/id/eprint/101898

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