Article
Novel IARS1 variants cause syndromic developmental disorder with epilepsy in a Chinese patient and the literature review.
Molecular genetics & genomic medicine - 1 Jan 2024
Jiang Jinsong, Feng Yu, Tang Qiaoyin, Zhao Chenyue, Guo Min, Wu Jianrui, Guo Rong, Lu Hongyong, Sun Xiayu, Gao Jingbo, Xue Huiqin
Abstract excerpt
BACKGROUND: Isoleucinyl-tRNA synthetase (IARS) is encoded by the IARS1 gene and catalyzes the binding of isoleucine to specific tRNA. OBJECTIVE: This study aims to investigate the pathogenicity of novel IARS1 variants and the genotype-phenotype association, in order to expand the spectrum of pathogenic variants and phenotypes of IARS1-related disease and provide new evidence for the phenotypic spectrum of IARS1...
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