A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).
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.
Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey. Electronic address: drolcaygungor@gmail.com.
Olcay
O
Güngör
Department of Pediatric Emergency, Faculty of Medicine, Cukurova University, Adana, Turkey. Electronic address: kaganozkaya@yahoo.com.
Ahmet Kağan
AK
Özkaya
Department of Medical Genetics, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: mdysahin@gmail.com.
Yavuz
Y
Şahin
Department of Radiology, Necip Fazıl City Hospital, Kahramanmaras, Turkey. Electronic address: drgulaygungor@gmail.com.
Gülay
G
Güngör
Department of Pediatric Neurology, Faculty of Medicine, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey. Electronic address: cengizdlb61@hotmail.com.
Cengiz
C
Dilber
Department of Pediatric Neurology, Faculty of Medicine, Gazi University, Ankara, Turkey. Electronic address: kursadaydin@hotmail.com.
Kürşad
K
Aydın
D001933:Brain Stem / Q000000981:diagnostic imaging* / Q000378:metabolism; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005500:Follow-Up Studies; D005975:Glutamate-tRNA Ligase / Q000235:genetics*; D006801:Humans; D019344:Lactic Acid / Q000378:metabolism*; D056784:Leukoencephalopathies / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D009154:Mutation; D012720:Severity of Illness Index; D013788:Thalamus / Q000000981:diagnostic imaging* / Q000378:metabolism
D019344:Lactic Acid; C000614184:EARS2 protein, human; D005975:Glutamate-tRNA Ligase
EARS2; Leukoencephalopathy; Mitochondrial aminoacyl-tRNA synthetase