IARS2 leukoencephalopathy

Evidence-based neurology checklist on iars2 leukoencephalopathy: Genetics This is caused by mutations in the IARS2 gene The gene encodes mitochondrial isoleucyl-tRNA synthetase Phenotypes CAGSSS: core features CAGSSS: dysmorphic features CAGSSS: skeletal features CAGSSS: other features Acronym

Genetics

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

Phenotypes

CAGSSS: core features

CAGSSS: dysmorphic features

CAGSSS: skeletal features

CAGSSS: other features

Acronym

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. 

Related checklists

Loading...