A recurrent GARS mutation causes distal hereditary motor neuropathy

J Peripher Nerv Syst. 2019 Dec;24(4):320-323. doi: 10.1111/jns.12353. Epub 2019 Nov 22.

Abstract

We found a p.Gly327Arg mutation in GARS in two unrelated women, both of whom had a similar phenotype - motor weakness that began in late childhood, distal weakness in the arms and legs, a motor greater than sensory neuropathy with slowing of motor and not sensory conduction velocities. A de novo mutation was proven in one patient and suspected in the other. The p.Gly327Arg GARS variant did not support yeast growth in a complementation assay, showing that this variant severely impairs protein function. Thus, the p.Gly327Arg GARS mutation causes a distal motor neuropathy.

Keywords: CMT; Charcot-Marie-Tooth disease; HMN; aminoacyl transferase.

Publication types

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

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Glycine-tRNA Ligase / genetics*
  • Humans
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / physiopathology*
  • Mutation
  • Young Adult

Substances

  • Glycine-tRNA Ligase

Supplementary concepts

  • Distal Hereditary Motor Neuropathy, Type II