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

Kidney Int. 2012 Jan;81(1):11-3. doi: 10.1038/ki.2011.330.

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 types

  • Research Support, Non-U.S. Gov't
  • Comment

MeSH terms

  • Atypical Hemolytic Uremic Syndrome
  • Complement Factor H / genetics
  • Genetic Variation*
  • Hemolytic-Uremic Syndrome / genetics*
  • Humans
  • Male

Substances

  • CFH protein, human
  • Complement Factor H