Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy.
Marjo S van der KnaapMarianna BugianiMarisa I MendesLisa G RileyDesiree E C SmithJoëlle Rudinger-ThirionMagali FrugierMarjolein BreurJoanna CrawfordJudith van GaalenMeyke SchoutenMarjolaine WillemsQuinten WaisfiszFrederic Tran Mau-ThemRichard J RodenburgRyan J TaftBoris KerenJohn ChristodoulouChristel DepienneCas SimonsGajja S SalomonsFanny MochelPublished in: Neurology (2019)
This study adds LARS2 and KARS pathogenic variants as gene defects that may underlie deafness, ovarian failure, and leukodystrophy with mitochondrial signature. We discuss the specific MRI characteristics shared by leukodystrophies caused by mitochondrial tRNA synthase defects. We propose to add aminoacylation assays as biochemical diagnostic tools for leukodystrophies.