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, cilt.38, ss.857-861, 2016 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 38 Konu: 9
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.braindev.2016.04.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Sayfa Sayıları: ss.857-861

Özet

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.