Mitochondrial disorders

Gene: CARS2

Green List (high evidence)

Please note additional third case of CARS2 deficiency.

Created: 27 Aug 2018, 10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Combined oxidative phosphorylation deficiency 27, MIM#616672

Publications

• 30139652

Variants in this GENE are reported as part of current diagnostic practice

Comment on list classification: Additional case of epilepsy, intellectual impairment, dysphagia with gastric tube dependence, and autism spectrum disorder who presented with focal status epilepticus.in a 13 year girl who was compound heterozygous for novel CARS2 variants (PMID 30139652).

Created: 16 Apr 2019, 1:46 p.m.

If sufficient evidence becomes available for this gene to be promoted to Green, the data should be assessed to see whether or not it is appropriate to add it to the Inherited white matter disorders, Epileptic encephalopathy or other panels (based on comments from Helen Britain)

Created: 19 Dec 2017, 4:23 p.m.

PMID: 25361775: homozygous c.655G>A mutation in the CARS2 gene cosegregating in a consanguineous family with 2 affected individuals whose clinical symptoms closely resembled MERRF (myoclonus epilepsy with ragged red fibers) syndrome. Followed up with analysis showed mutation resulted in deletion of exon 6; PMID: 25787132: detection of heterozygous compound mutations in CARS2 in a proband with an epileptic encephalopathy, complex movement disorder and a combined mitochondrial respiratory chain enzyme deficiency. Both mutations affect conserved amino acids within the functional ligase domain of the cysteinyl-tRNA synthase, and a decrease in the amount of charged mt-tRNA(Cys) was detected in patient fibroblasts compared with controls.

Created: 26 Feb 2016, 3:18 p.m.

Publications

• 25361775
• 25787132

Green List (high evidence)