FARS2 leukoencephalopathy

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

FARS2 leukoencephalopathy. This is caused by mutations in the FARS2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the FARS2 gene
  • The gene encodes phenylalanyl-aminoacyl-tRNA synthetase

Clinical features

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Dysmorphic features

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Magnetic resonance imaging (MRI) brain: features

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Other tests

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References

  1. Almalki A, Alston CL, Parker A, et al. Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency. Biochim Biophys Acta 2014; 1842:56-64.
  2. Vantroys E, Larson A, Friederich M, et al. New insights into the phenotype of FARS2 deficiency. Mol Genet Metab 2017; 122:172-181.
  3. Vernon HJ, McClellan R, Batista DA, Naidu S. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings. Am J Med Genet A 2015; 167A:1147-1151. 
  4. Walker MA, Mohler KP, Hopkins KW, et al. Novel compound heterozygous mutations expand the recognized phenotypes of FARS2-linked disease. J Child Neurol 2016; 31:1127-1137. 
  5. Almannai M, Wang J, Dai H, et al. FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance. Mol Genet Metab 2018; 125:281-291.
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