IARS2相关疾病的基因型-表型相关性：一例病例报告及文献综述
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.
作者信息
Upadia Jariya, Li Yuwen, Walano Nicolette, Deputy Stephen, Gajewski Kelly, Andersson Hans C
机构信息
Hayward Genetics Center Tulane University School of Medicine New Orleans Louisiana USA.
Department of Pediatrics Tulane University School of Medicine New Orleans Louisiana USA.
出版信息
Clin Case Rep. 2022 Feb 24;10(2):e05401. doi: 10.1002/ccr3.5401. eCollection 2022 Feb.
Isoleucyl-tRNA synthetase 2 encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the gene are associated with mitochondrial disease. We report a female with compound heterozygous variants, p.Val499Glyfs*14 and p.Arg784Trp who presented with infantile spasms, Leigh disease and Wolff-Parkinson White (WPW) pattern. This report expands the phenotypic spectrum of -related disease.
异亮氨酰 - tRNA合成酶2编码线粒体异亮氨酸 - tRNA合成酶。该基因的致病性变异与线粒体疾病相关。我们报告了一名患有复合杂合变异p.Val499Glyfs*14和p.Arg784Trp的女性，她表现为婴儿痉挛症、 Leigh病和 Wolff - Parkinson - White（WPW）综合征。本报告扩展了相关疾病的表型谱。
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