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Interpretation of genetic variants of uncertain significance in atypical hemolytic uremic syndrome

Lookup NU author(s): Professor David KavanaghORCiD, Dr Holly Anderson

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Abstract

Mutations in complement proteins predispose to atypical hemolytic uremic syndrome (aHUS). Mutation screening in aHUS is challenging, because most of the disease-associated mutations are individually rare, and a significant proportion of variants consist of missense mutations of unknown significance. The definitive interpretation of a variant of unknown significance (VUS) is often dependent on a reliable functional assay too time-consuming to be used in a diagnostic screening service. Allied research groups have analyzed these VUSs in aHUS.

Publication metadata

Author(s): Kavanagh D, Anderson HE

Publication type: Article

Publication status: Published

Journal: Kidney International

Year: 2012

Volume: 81

Issue: 1

Pages: 11-3

Print publication date: 16/12/2011

ISSN (print): 0085-2538

ISSN (electronic): 1523-1755

Publisher: Nature Publishing Group

URL: http://dx.doi.org/10.1038/ki.2011.330

DOI: 10.1038/ki.2011.330

PubMed id: 22170528

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