IARS2 leukoencephalopathy

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

IARS2 leukoencephalopathy. This is caused by mutations in the IARS2 gene. Fully referenced neurology checklist.

Genetics

  • This is caused by mutations in the IARS2 gene
  • The gene encodes mitochondrial isoleucyl-tRNA synthetase

Phenotypes

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CAGSSS: core features

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CAGSSS: dysmorphic features

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CAGSSS: skeletal features

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CAGSSS: other features

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Acronym

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References

  1. Vona B, Maroofian R, Bellacchio E, et al. Expanding the clinical phenotype of IARS2-related mitochondrial disease. BMC Med Genet 2018; 19:196.
  2. Moosa S, Haagerup A, Gregersen PA, et al. Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am J Med Genet A 2017; 173:1102-1108.
  3. Takezawa Y, Fujie H, Kikuchi A, et al. Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome. Brain Dev 2018; 40:934-938. 

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