Ontology highlight
ABSTRACT:
SUBMITTER: Kuo ME
PROVIDER: S-EPMC6982554 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Cerebellum (London, England) 20200201 1
Mutations in the mitochondrial alanyl-tRNA synthetase gene, AARS2, have been reported to cause leukoencephalopathy associated with early ovarian failure, a clinical presentation described as "ovarioleukodystrophy." We present a sibling pair: one with cerebellar ataxia and one with vision loss and cognitive impairment in addition to ataxia. Neither shows evidence of leukoencephalopathy on MRI imaging. Exome sequencing revealed that both siblings are compound heterozygous for AARS2 variants (p.Phe ...[more]