Inherited white matter disorders

Gene: AARS2

Comment on list classification: A second case report in a Japanese patient has now been published (PMID: 27251004) to give a total of 7 patients, and different variants.

Created: 26 Aug 2016, 7:18 a.m.

Comment on list classification: 6 patients reported, but only in one study.

Created: 12 Aug 2016, 9:53 a.m.

Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer. 6 patients reported in PMID: 24808023 with variants in AARS2: "The 6 patients with AARS2 mutations had childhood- to adulthood-onset signs of neurologic deterioration consisting of ataxia, spasticity, and cognitive decline with features of frontal lobe dysfunction. MRIs showed a leukoencephalopathy with striking involvement of left-right connections, descending tracts, and cerebellar atrophy. All female patients had ovarian failure. None of the patients had signs of a cardiomyopathy." The publication states "We did not find AARS2 mutations in the 2 patients with ovarioleukodystrophy". On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951.

Created: 12 Aug 2016, 9:47 a.m.

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy

Publications

• Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_636

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