A de novo missense mutation of the FUS gene in a "true" sporadic ALS case

Neurobiol Aging. 2011 Mar;32(3):553.e23-6. doi: 10.1016/j.neurobiolaging.2010.05.016. Epub 2010 Jul 3.

Abstract

Mutations in the Cu/Zn superoxide dismutase (SOD1), transactive response (TAR)-DNA binding protein (TARDBP) and fused in sarcoma (FUS) genes account for approximately 1 third of familial amyotrophic lateral sclerosis (ALS) cases. Mutations in these genes have been found in 1% to 2% of apparently sporadic cases. We present the first case of an ALS patient carrying a de novo missense mutation of the FUS gene (c.1561C>T, p.R521C). This report highlights the importance of screening ALS patients, both familial and sporadic, for FUS mutations and also suggests that de novo mutations is a relevant mechanism underlying sporadic neurodegenerative disease.

Publication types

  • Case Reports
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amyotrophic Lateral Sclerosis / genetics*
  • DNA Mutational Analysis / methods
  • Family Health*
  • Humans
  • Male
  • Mutation, Missense / genetics*
  • RNA-Binding Protein FUS / genetics*

Substances

  • RNA-Binding Protein FUS