QARS2 leukoencephalopathy

Evidence-based neurology checklist on qars2 leukoencephalopathy: Genetics This is caused by mutations in the QARS2 gene The gene encodes mitochondrial glutaminyl-tRNA synthetase Clinical features Magnetic resonance imaging (MRI) brain: features

Genetics

  • This is caused by mutations in the QARS2 gene
  • The gene encodes mitochondrial glutaminyl-tRNA synthetase

Clinical features

Magnetic resonance imaging (MRI) brain: features

References

  1. Johannesen KM, Mitter D, Janowski R, et al. Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy. Neurol Genet 2019; 5:e373.
  2. Zhang X, Ling J, Barcia G, et al. Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures. Am J Hum Genet 2014; 94:547-558. 
  3. Kodera H, Osaka H, Iai M, et al. Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy. J Hum Genet 2015; 60:97-101.
  4. Salvarinova R, Ye CX, Rossi A, et al. Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities. Neurogenetics 2015; 16:145-149.

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