Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: UMLS:C0153640 (
Cerebellum
)
1,777
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.Phe131del and p.Ile328Met). Yeast complementation assays indicate that p.Phe131del
AARS2
dramatically impairs gene function and that p.Ile328Met
AARS2
is a hypomorphic allele. This work expands the phenotypic spectrum of
AARS2
-associated disease to include ataxia without leukoencephalopathy.
Cerebellum
2020 Feb
PMID:Alanyl-tRNA Synthetase 2 (AARS2)-Related Ataxia Without Leukoencephalopathy. 3170 93
