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

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

Author information

1
Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey. Electronic address: drolcaygungor@gmail.com.
2
Department of Pediatric Emergency, Faculty of Medicine, Cukurova University, Adana, Turkey. Electronic address: kaganozkaya@yahoo.com.
3
Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: mdysahin@gmail.com.
4
Department of Radiology, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: drgulaygungor@gmail.com.
5
Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey. Electronic address: cengizdlb61@hotmail.com.
6
Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Ankara, Turkey. Electronic address: kursadaydin@hotmail.com.

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

PMID:
27117034
DOI:
10.1016/j.braindev.2016.04.002
[Indexed for MEDLINE]

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