De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case

Neurobiol Aging. 2014 Jun;35(6):1513.e7-11. doi: 10.1016/j.neurobiolaging.2013.12.028. Epub 2013 Dec 27.

Abstract

Mutations in C9ORF72, SOD1, TARDBP, and FUS genes account for approximately two-third of familial cases and 5% of sporadic amyotrophic lateral sclerosis (ALS) cases. We present the first case of an ALS patient carrying a de novo nonsense mutation in exon 14 of the FUS gene (c.1483c>t; p.R495X) with an apparently familial ALS. This mutation causes a phenotype characterized by a young age at onset, a rapid course (<24 months), and a bulbar onset with early respiratory involvement with a predominant lower motor neuron disease. De novo mutations could account for a sizable number of apparently sporadic ALS patients carrying mutations of ALS-related genes.

Keywords: Amyotrophic lateral sclerosis; FUS; de novo mutation.

Publication types

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

MeSH terms

  • Adult
  • Age Factors
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / genetics*
  • Codon, Nonsense / genetics*
  • Exons / genetics
  • Female
  • Genetic Association Studies
  • Heterozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • RNA-Binding Protein FUS / genetics*
  • Time Factors
  • Young Adult

Substances

  • Codon, Nonsense
  • RNA-Binding Protein FUS