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Lookup NU author(s): Dr Valerie Wilson, Tom Cox, Dr Kate Smith-Jackson, Professor David KavanaghORCiD, Professor Tim Goodship
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND).
Chromosomal rearrangements affecting the genes encoding complement factor H and the factor H related proteins have been described in aHUS patients. To date such disorders have not been described in other aHUS associated genes. We describe here a heterozygous 875,324bp deletion encompassing the gene (CFI) encoding complement factor I and ten other genes. The index case presented with aHUS and did not recover renal function. No abnormalities were detected on Sanger sequencing of CFI but a low factor I level led to a multiplex ligation-dependent probe amplification assay being undertaken. This showed a complete heterozygous deletion of CFI. The extent of the deletion and the breakpoint was defined. In the Newcastle aHUS cohort we have identified and report here 32 different CFI variants in 56 patients but to date this is the only deletion that we have identified. This finding although rare does suggest that screening for chromosomal rearrangements affecting CFI should be undertaken in all aHUS patients particularly if the factor I level is unexplainably low.
Author(s): Gleeson PJ, Wilson V, Cox TE, Sharma SD, Smith-Jackson K, Strain L, Lappin D, McHale T, Kavanagh D, Goodship THJ
Publication type: Article
Publication status: Published
Journal: Immunobiology
Year: 2016
Volume: 221
Issue: 10
Pages: 1124-1130
Print publication date: 01/10/2016
Online publication date: 10/05/2016
Acceptance date: 08/05/2016
Date deposited: 11/10/2016
ISSN (print): 0171-2985
ISSN (electronic): 1878-3279
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.imbio.2016.05.002
DOI: 10.1016/j.imbio.2016.05.002
PubMed id: 27268256
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