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

作者：Gungor Olcay; Ozkaya Ahmet Kagan^*; Sahin Yavuz; Gungor Gulay; Dilber Cengiz; Aydin Kursad

来源：Brain & Development, 2016, 38(9): 857-861.

DOI：10.1016/j.braindev.2016.04.002

• EARS2
• Leukoencephalopathy
• Mitochondrial aminoacyl-tRNA synthetase

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.

• 出版日期2016-10