LARS2 and KARS gene defects may cause deafness and (ovario)leukodystrophy

Takeaway

  • LARS2 and KARS pathogenic variants (PVs) may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature.

Why this matters

  • mutations expand the spectrum of gene defects that may cause deafness, ovarian failure, and a distinct leukodystrophy.

  • Because LARS mutation was shown to alter its enzymatic activity, aminoacylation assays could be used as a biochemical diagnostic tool for leukodystrophies and become a key part of the diagnosis process.