Hypomyelinating leukodystrophies associated with Bi-allelic mutations in EPRS
The authors reported four unrelated affected individuals with hypomyelination and bi-allelic pathogenic variants inEPRS, the gene encoding cytoplasmic glutamyl-prolyl-amino-acyl-tRNA synthetase. This resulted in causing leukodystrophies by mutations in genes encoding cytoplasmic aminoacyl-tRNA synthetases and sharing a common mechanism that reduces protein availability, abnormal assembly of the multisynthetase complex and abnormal aminoacylation due to reduced translation capacity and insufficient myelin deposition in the developing brain.
Am J Hum Genet. 2018 Apr 5;102(4):676-684