1.College of Pediatrics, Children’s Hospital of Shanxi Medical University, Shanxi Province, Taiyuan 030001, China; 2.Department of Cytogenetics, Children’s Hospital of Shanxi, Women Health Center of Shanxi, Shanxi Province, Taiyuan 030013, China
Abstract：Recobinant isoleucyl-tRNA synthetase (IARS) catalyzes isoleucine and specific tRNA to bind and regulate protein synthesis, and also regulates intracellular signaling pathways and participates in intracellular metabolic processes. IARS gene variation is very rare in animals and humans. The deficiency of IARS caused by IARS mutation is a rare autosomal recessive genetic disease, resulting in severe developmental delay, impaired intellectual development, hypotonia, and abnormal liver function. And the specific amino acid therapy after IARS gene mutation has also become a current research hotspot. This article reviews the research progress in this field, with a view to summarizing the phenotypes associated with IARS gene variation, clarifying the association between genotype and phenotype, and the possible pathogenesis, and providing references for the etiology research.
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2023, Vol. 20 
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