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:C0085584 (
encephalopathy
)
18,178
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Mutations in
FARS2
, the gene encoding the mitochondrial
phenylalanine-tRNA synthetase
(mtPheRS), have been linked to a range of phenotypes including epileptic
encephalopathy
, developmental delay, and motor dysfunction. We report a 9-year-old boy with novel compound heterozygous variants of
FARS2
, presenting with a pure spastic paraplegia syndrome associated with bilateral signal abnormalities in the dentate nuclei. Exome sequencing identified a paternal nonsense variant (Q216X) lacking the catalytic core and anticodon-binding regions, and a maternal missense variant (P136H) possessing partial enzymatic activity. This case confirms and expands the phenotype related to
FARS2
mutations with regards to clinical presentation and neuroimaging findings.
...
PMID:
FARS2
mutations presenting with pure spastic paraplegia and lesions of the dentate nuclei. 3025 Aug 68
