期刊
JOURNAL OF HUMAN GENETICS
卷 59, 期 4, 页码 229-232出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2013.143
关键词
mitochondria; myopathy; lactic acidosis and sideroblastic anemia 2; tyrosyl-tRNA synthetase; whole-exome sequencing; YARS2
资金
- Ministry of Health, Labour and Welfare
- Ministry of Education, Culture, Sports, Science and Technology
- Ministry of Education, Culture, Sports, Science and Technology of Japan
- Japan Society for the Promotion of Science
- Takeda Science Foundation
- Hayashi Memorial Foundation for Female Natural Scientists
Mitochondrial diseases are associated with defects of adenosine triphosphate production and energy supply to organs as a result of dysfunctions of the mitochondrial respiratory chain. Biallelic mutations in the YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase cause myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2), a type of mitochondrial disease. Here, we report a consanguineous Turkish family with two siblings showing severe metabolic decompensation including recurrent hypoglycemia, lactic acidosis, and transfusion-dependent anemia. Using whole-exome sequencing of the proband and his parents, we identified a novel YARS2 mutation (c.1303A4G >, p.Ser435Gly) that was homozygous in the patient and heterozygous in his parents. This mutation is located at the ribosomal protein S4-like domain of the gene, while other reported YARS2 mutations are all within the catalytic domain. Interestingly, the proband showed more severe symptoms and an earlier onset than previously reported patients, suggesting the functional importance of the S4-like domain in tyrosyl-tRNA synthetase.
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