Key result
The p.Gly327Arg mutation in GARS causes a distal hereditary motor neuropathy characterized by late childhood onset motor weakness and slowing of motor conduction velocities.
Case Report (n=2)
p.Gly327Arg GARS may cause distal hereditary motor neuropathy; leaves open validation in larger cohorts before clinical adoption.
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.
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Lee et al. (2019) conducted a case report in Distal hereditary motor neuropathy (n=2). p.Gly327Arg mutation in GARS was evaluated on Phenotype (motor weakness, distal weakness, motor greater than sensory neuropathy). The p.Gly327Arg mutation in GARS causes a distal hereditary motor neuropathy characterized by late childhood onset motor weakness and slowing of motor conduction velocities.
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