A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL)

Brain Dev. 2016 Oct;38(9):857-61. doi: 10.1016/j.braindev.2016.04.002. Epub 2016 Apr 23.

Abstract

Mitochondrial glutamyl-tRNA synthetase is a major component of protein biosynthesis that loads tRNAs with cognate amino acids. Mutations in the gene encoding this enzyme have been associated with a variety of disorders related to oxidative phosphorylation. Here, we present a case of leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) presenting a biphasic clinical course characterized by delayed psychomotor development and seizure. High-throughput sequencing revealed a novel compound heterozygous mutation in mitochondrial glutamyl-tRNA synthetase 2 (EARS2), which appears to be causative of disease symptoms.

Keywords: EARS2; Leukoencephalopathy; Mitochondrial aminoacyl-tRNA synthetase.

Publication types

  • Case Reports

MeSH terms

  • Brain Stem / diagnostic imaging*
  • Brain Stem / metabolism
  • Child, Preschool
  • DNA Mutational Analysis
  • Female
  • Follow-Up Studies
  • Glutamate-tRNA Ligase / genetics*
  • Humans
  • Lactic Acid / metabolism*
  • Leukoencephalopathies / diagnosis
  • Leukoencephalopathies / drug therapy
  • Leukoencephalopathies / genetics*
  • Leukoencephalopathies / physiopathology*
  • Magnetic Resonance Imaging
  • Magnetic Resonance Spectroscopy
  • Mutation*
  • Severity of Illness Index
  • Thalamus / diagnostic imaging*
  • Thalamus / metabolism

Substances

  • Lactic Acid
  • EARS2 protein, human
  • Glutamate-tRNA Ligase