Factor H mutations in hemolytic uremic syndrome cluster in exons 18-20, a domain important for host cell recognition

Am J Hum Genet. 2001 Feb;68(2):485-90. doi: 10.1086/318203. Epub 2001 Jan 17.

Abstract

Several recent studies have established an association between abnormalities of complement factor H (FH) and the development of hemolytic uremic syndrome (HUS). To identify the relative importance of mutations in FH as a cause of HUS, we have undertaken mutation screening of the FH gene in 19 familial and 31 sporadic patients with FH. Mutations were found in two familial and three sporadic patients, and these clustered in exons 18-20, a domain important for host recognition. Moreover, this study demonstrates that familial HUS is likely to be a heterogeneous condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acid Substitution
  • Binding Sites / genetics
  • Complement Factor H / genetics*
  • Exons / genetics*
  • Frameshift Mutation
  • Hemolytic-Uremic Syndrome / genetics*
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Sequence Homology, Amino Acid

Substances

  • complement factor H, human
  • Complement Factor H

Associated data

  • OMIM/134370
  • SWISSPROT/AAA92556
  • SWISSPROT/CAA39666
  • SWISSPROT/CAA68704
  • SWISSPROT/CAB53064
  • SWISSPROT/I37388
  • SWISSPROT/M12660
  • SWISSPROT/NP_006675