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

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.

DOI: 10.1016/j.braindev.2016.04.002

Cite this paper

@article{Gngr2016ACH, title={A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).}, author={Olcay G{\"{u}ng{\"{o}r and Ahmet Kağan {\"{O}zkaya and Yavuz Sahin and G{\"{u}lay G{\"{u}ng{\"{o}r and Cengiz Dilber and K{\"{u}rşad Aydın}, journal={Brain & development}, year={2016}, volume={38 9}, pages={857-61} }