A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene.
We report two male Taiwanese siblings in whom the T-->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffuse white matter and the bilateral posterior limbs of the internal capsule. The m.9176T>C mutation is suggested as the cause of the bilateral striatal necrosis and Leigh syndrome. However, leukodystrophy in Leigh syndrome associated with m.9176T>C mutation has never been reported before. We suggest that m.9176T>C mutation could be a new aetiology for leukodystrophy in children with Leigh syndrome.
Hung
Po-Cheng
PC
Division of Pediatric Neurology, Chang Gung Memorial Hospital, College of Medicine, Chang Gung University, Taoyuan, Taiwan. hongfh@ms14.hinet.net
Wang
Huei-Shyong
HS
D000140:Acidosis, Lactic / Q000150:complications; D001706:Biopsy; D001921:Brain / Q000201:enzymology / Q000473:pathology; D004272:DNA, Mitochondrial / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D007888:Leigh Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000235:genetics* / Q000473:pathology*; D008297:Male; D025261:Mitochondrial Proton-Translocating ATPases / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*
D004272:DNA, Mitochondrial; C412204:ATP synthase subunit 6; D025261:Mitochondrial Proton-Translocating ATPases