期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 99, 期 2, 页码 414-422出版社
CELL PRESS
DOI: 10.1016/j.ajhg.2016.05.027
关键词
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资金
- German Bundesministerium fur Bildung und Forschung (BMBF) [01GM1207]
- German Network for Mitochondrial Disorders (mitoNET) [01GM1113C]
- BMBF through the Juniorverbund in der Systemmedizin mitOmics [FKZ 01ZX1405C]
- EU [317433, 633974]
- Japan Agency for Medical Research and Development (AMED)
- Ministry of Education, Culture, Sports, Science and Technology (MEXT), Japan
- MEXT, Japan
- [27008B]
tRNA synthetase deficiencies are a growing group of genetic diseases associated with tissue-specific, mostly neurological, phenotypes. In cattle, cytosolic isoleucyl-tRNA synthetase (IARS) missense mutations cause hereditary weak calf syndrome. Exome sequencing in three unrelated individuals with severe prenatal-onset growth retardation, intellectual disability, and muscular hypotonia revealed biallelic mutations in IARS. Studies in yeast confirmed the pathogenicity of identified mutations. Two of the individuals had infantile hepatopathy with fibrosis and steatosis, leading in one to liver failure in the course of infections. Zinc deficiency was present in all affected individuals and supplementation with zinc showed a beneficial effect on growth in one.
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