Novel lysyl-tRNA synthetase pathogenic variants in a severe progressive leukodystrophy phenotype

Takeaway

  • Newly-identified lysyl-tRNA synthetase (KARS) variants were associated with reductions in enzymatic activity and expression of LysRS proteins in people with a severe progressive leukodystrophy phenotype.

Why this matters

  • Abnormalities in t-RNA synthetase proteins such as LysRS, encoded by ARS genes, have been linked to the severe neurodevelopmental defects associated with leukodystrophies.