A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent
Copyright policy )A novel variant m.641A>T in the mitochondrial MT-TF gene is associated with epileptic encephalopathy in adolescent
We present a 14-year-old girl with loss of motor functions, tetraplegia, epilepsy and nystagmus, caused by a novel heteroplasmic m.641A>T transition in an evolutionary conserved region of mitochondrial genome, affecting the aminoacyl stem of mitochondrial tRNA-Phe. In silico prediction, respirometry, Western blot and enzymatic analyses in skin fibroblasts support the pathogenicity of the m.641A>T substitution. This is the 18th MT-TF point mutation associated with a mitochondrial disorder. The onset and the severity of the disease, however, is unique in this case and broadens the clinical picture related to mutations of mitochondrial tRNA-Phe.
- University of Bari Aldo Moro Italy
- Lomonosov Moscow State University Russian Federation
- Boston Children's Hospital United States
- Research Centre for Medical Genetics Russian Federation
Brain Diseases, Epilepsy, Adolescent, mtDNA, RNA, Mitochondrial, Genetic Diseases, Inborn, Encephalopathy, Mitochondrial disease, Mitochondria, RNA, Transfer, Phe, Genes, Mitochondrial, Transfer RNA(Phe), Humans, Point Mutation, Female, MT-TF
Brain Diseases, Epilepsy, Adolescent, mtDNA, RNA, Mitochondrial, Genetic Diseases, Inborn, Encephalopathy, Mitochondrial disease, Mitochondria, RNA, Transfer, Phe, Genes, Mitochondrial, Transfer RNA(Phe), Humans, Point Mutation, Female, MT-TF
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