Olcay Güngör, Ahmet Kağan Özkaya, Yavuz Şahin, Gülay Güngör, Cengiz Dilber, Kürşad Aydın
Brain & development 2016 OctMitochondrial 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. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Olcay Güngör, Ahmet Kağan Özkaya, Yavuz Şahin, Gülay Güngör, Cengiz Dilber, Kürşad Aydın. A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL). Brain & development. 2016 Oct;38(9):857-61
PMID: 27117034
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