Ikeda Takahiro, Osaka Hitoshi, Shimbo Hiroko, Tajika Makiko, Yamazaki Masayo, Ueda Ayako, Murayama Kei, Yamagata Takanori
1Division of Pediatrics, Jichi Medical University, Shimotsuke, Tochigi Japan.
2Department of Pediatric Neurology, Kanagawa Children's Medical Center, Yokohama, Kanagawa Japan.
Hum Genome Var. 2018 Sep 4;5:25. doi: 10.1038/s41439-018-0026-6. eCollection 2018.
Approximately 80% of cases of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) harbor a heteroplasmic m.3243A>G transition in the tRNA () gene. We report a MELAS case with a rare heteroplasmic m.3243A>T mutation found by direct sequencing of . This mutation has been previously reported in 5 cases, of which 2 cases had the MELAS phenotype. Our case also strengthens the hypothesis that the m.3243A>T mutation can cause the MELAS phenotype.
约80%的线粒体肌病、脑病、乳酸酸中毒和卒中样发作（MELAS）病例在tRNA（）基因中存在异质性m.3243A>G转换。我们报告了1例通过对进行直接测序发现罕见异质性m.3243A>T突变的MELAS病例。该突变先前在5例病例中被报道过，其中2例具有MELAS表型。我们的病例也强化了m.3243A>T突变可导致MELAS表型的假说。
