PDF(Pubmed)
Abstract：
Isoleucyl-tRNA synthetase 2 (IARS2) encodes mitochondrial isoleucine-tRNA synthetase. Pathogenic variants in the IARS2 gene are associated with mitochondrial disease. We report a female with IARS2 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 IARS2-related disease.
摘要：
异亮氨酸-tRNA合成酶2(IARS2)编码线粒体异亮氨酸-tRNA合成酶。IARS2基因的致病变异与线粒体疾病相关。我们报道了一个具有IARS2复合杂合变体的女性，出现婴儿痉挛的p.Val499Glyfs*14和p.Arg784Trp，Leigh病和Wolff-ParkinsonWhite(WPW)模式。该报告扩展了IARS2相关疾病的表型谱。
