A recurrent GARS mutation causes distal hereditary motor neuropathy.

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.

SUBMITTER: Lee DC 

PROVIDER: S-EPMC6910989 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature