Novel mitochondrial C15620A variant may modulate the phenotype of mitochondrial G11778A mutation in a Chinese family with Leigh syndrome.
We report a case of 3-year-old boy who presented with Leigh syndrome but carried a mitochondrial G11778A mutation in the fourth subunit of the NADH dehydrogenase gene (MTND4). Additional to G11778A mutation, a novel C15620A variant was detected, which resulted in the conversion from leucine to isoleucine in the mitochondrial cytochrome b gene. As G11778A mutation is the most common mutation associated with Leber's hereditary optic neuropathy (LHON), given the unusual phenotype, the C15620A mutation was postulated to influence the pathogenicity of the G11778A mutation. This case further expands the clinical spectrum associated with the primary G11778A LHON mutation.
Laboratory of Neuromuscular Disorders and Department of Neurology, Qilu Hospital, Shandong University, No. 107, West Wenhua Road, Jinan, 250012, China.
Kunqian
K
Ji
Jinfan
J
Zheng
Baoying
B
Sun
Fuchen
F
Liu
Jingli
J
Shan
Duoling
D
Li
Yue-Bei
YB
Luo
Yuying
Y
Zhao
Chuanzhu
C
Yan
D019943:Amino Acid Substitution; D002478:Cells, Cultured; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D004948:Esotropia / Q000235:genetics; D005347:Fibroblasts; D006801:Humans; D007888:Leigh Disease / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D053078:Membrane Potential, Mitochondrial; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics; D010085:Oxidative Phosphorylation; D010641:Phenotype; D017354:Point Mutation; D012150:Polymorphism, Restriction Fragment Length; D060888:Real-Time Polymerase Chain Reaction; D014202:Tremor / Q000235:genetics
D004272:DNA, Mitochondrial; C098483:NADH dehydrogenase subunit 4; D009245:NADH Dehydrogenase