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, sa.9, ss.857-861, 2016 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 9
  • Basım Tarihi: 2016
  • Doi Numarası: 10.1016/j.braindev.2016.04.002
  • Dergi Adı: BRAIN & DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.857-861
  • Anahtar Kelimeler: EARS2, Leukoencephalopathy, Mitochondrial aminoacyl-tRNA synthetase, DEFICIENCY, SPECTRUM
  • Gazi Üniversitesi Adresli: Evet

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.