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


Gungor O., Ozkaya A. K. , Sahin Y., Gungor G., Dilber C., Aydin K.

BRAIN & DEVELOPMENT, vol.38, no.9, pp.857-861, 2016 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 38 Issue: 9
  • Publication Date: 2016
  • Doi Number: 10.1016/j.braindev.2016.04.002
  • Title of Journal : BRAIN & DEVELOPMENT
  • Page Numbers: pp.857-861

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. (C) 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.