• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

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.

DOI:10.1002/ccr3.5401
PMID:35228874
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8867157/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/1bd0f5a3ce8f/CCR3-10-e05401-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/c2d94f466119/CCR3-10-e05401-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/e433c876fdb5/CCR3-10-e05401-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/a8197429b861/CCR3-10-e05401-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/1bd0f5a3ce8f/CCR3-10-e05401-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/c2d94f466119/CCR3-10-e05401-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/e433c876fdb5/CCR3-10-e05401-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/a8197429b861/CCR3-10-e05401-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7bd3/8867157/1bd0f5a3ce8f/CCR3-10-e05401-g005.jpg

相似文献

1
Genotype-phenotype correlation in IARS2-related diseases: A case report and review of literature.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
Clin Case Rep. 2022 Feb 24;10(2):e05401. doi: 10.1002/ccr3.5401. eCollection 2022 Feb.
2
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.患有CAGSSS、Leigh综合征和韦斯特综合征的日本兄妹中的新型IARS2突变。
Brain Dev. 2018 Nov;40(10):934-938. doi: 10.1016/j.braindev.2018.06.010. Epub 2018 Jul 2.
3
A Pair of Compound Heterozygous Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient.一名中国患者中表现为韦斯特综合征和电解质紊乱的一对复合杂合变异体
Glob Med Genet. 2024 Jan 16;11(1):25-28. doi: 10.1055/s-0043-1778091. eCollection 2024 Jan.
4
Expanding the clinical phenotype of IARS2-related mitochondrial disease.扩展与IARS2相关的线粒体疾病的临床表型。
BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
5
Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome.患有白内障、生长激素缺乏伴身材矮小、部分感音神经性耳聋和周围神经病变或Leigh综合征的患者中，核编码的线粒体异亮氨酰-tRNA合成酶IARS2发生突变。
Hum Mutat. 2014 Nov;35(11):1285-9. doi: 10.1002/humu.22629. Epub 2014 Oct 18.
6
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.IARS2 突变导致 Leigh 综合征伴氧化磷酸化缺陷。
Orphanet J Rare Dis. 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x.
7
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.在一名患有IARS2基因纯合新突变的丹麦患者中，CAGSSS综合征被确认为一种独特的疾病实体。
Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.
8
-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.表现为铁粒幼细胞性贫血和甲状旁腺功能减退的相关疾病：一例报告
Front Pediatr. 2023 Jan 10;10:1080664. doi: 10.3389/fped.2022.1080664. eCollection 2022.
9
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.与异亮氨酰-tRNA 合成酶基因突变相关的线粒体疾病的机制及未来研究展望。
Genes (Basel). 2024 Jul 8;15(7):894. doi: 10.3390/genes15070894.
10
Mitochondrial protein isoleucyl-tRNA synthetase 2 in tumor cells as a potential therapeutic target for cervical cancer.肿瘤细胞中的线粒体蛋白异亮氨酰 - tRNA合成酶2作为宫颈癌的潜在治疗靶点。
Cytojournal. 2024 Jun 29;21:22. doi: 10.25259/Cytojournal_17_2024. eCollection 2024.

引用本文的文献

1
IARS2 mutations lead to Leigh syndrome with a combined oxidative phosphorylation deficiency.IARS2 突变导致 Leigh 综合征伴氧化磷酸化缺陷。
Orphanet J Rare Dis. 2024 Aug 21;19(1):305. doi: 10.1186/s13023-024-03310-x.
2
Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations.与异亮氨酰-tRNA 合成酶基因突变相关的线粒体疾病的机制及未来研究展望。
Genes (Basel). 2024 Jul 8;15(7):894. doi: 10.3390/genes15070894.
3
Mitochondrial protein isoleucyl-tRNA synthetase 2 in tumor cells as a potential therapeutic target for cervical cancer.

本文引用的文献

1
Phenotypic diversity of brain MRI patterns in mitochondrial aminoacyl-tRNA synthetase mutations.线粒体氨酰-tRNA 合成酶突变的脑 MRI 模式的表型多样性。
Mol Genet Metab. 2021 Jun;133(2):222-229. doi: 10.1016/j.ymgme.2021.04.004. Epub 2021 Apr 21.
2
Biallelic mutations presenting as sideroblastic anemia.表现为铁粒幼细胞性贫血的双等位基因突变。
Haematologica. 2021 Apr 1;106(4):1220-1225. doi: 10.3324/haematol.2020.270710.
3
Aminoacyl-tRNA synthetases.氨酰-tRNA 合成酶。
肿瘤细胞中的线粒体蛋白异亮氨酰 - tRNA合成酶2作为宫颈癌的潜在治疗靶点。
Cytojournal. 2024 Jun 29;21:22. doi: 10.25259/Cytojournal_17_2024. eCollection 2024.
4
A Pair of Compound Heterozygous Variants Manifesting West Syndrome and Electrolyte Disorders in a Chinese Patient.一名中国患者中表现为韦斯特综合征和电解质紊乱的一对复合杂合变异体
Glob Med Genet. 2024 Jan 16;11(1):25-28. doi: 10.1055/s-0043-1778091. eCollection 2024 Jan.
5
Identification of potential immune-related hub genes in Parkinson's disease based on machine learning and development and validation of a diagnostic classification model.基于机器学习的帕金森病潜在免疫相关枢纽基因鉴定及诊断分类模型的建立与验证。
PLoS One. 2023 Dec 5;18(12):e0294984. doi: 10.1371/journal.pone.0294984. eCollection 2023.
6
-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.表现为铁粒幼细胞性贫血和甲状旁腺功能减退的相关疾病：一例报告
Front Pediatr. 2023 Jan 10;10:1080664. doi: 10.3389/fped.2022.1080664. eCollection 2022.
RNA. 2020 Aug;26(8):910-936. doi: 10.1261/rna.071720.119. Epub 2020 Apr 17.
4
Expanding the clinical phenotype of IARS2-related mitochondrial disease.扩展与IARS2相关的线粒体疾病的临床表型。
BMC Med Genet. 2018 Nov 12;19(1):196. doi: 10.1186/s12881-018-0709-3.
5
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome.患有CAGSSS、Leigh综合征和韦斯特综合征的日本兄妹中的新型IARS2突变。
Brain Dev. 2018 Nov;40(10):934-938. doi: 10.1016/j.braindev.2018.06.010. Epub 2018 Jul 2.
6
Clinical and genetic characteristics of Chinese patients with familial or sporadic pediatric cataract.中国家族性或散发性小儿白内障患者的临床和遗传特征。
Orphanet J Rare Dis. 2018 Jun 18;13(1):94. doi: 10.1186/s13023-018-0828-0.
7
Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2.在一名患有IARS2基因纯合新突变的丹麦患者中，CAGSSS综合征被确认为一种独特的疾病实体。
Am J Med Genet A. 2017 Apr;173(4):1102-1108. doi: 10.1002/ajmg.a.38116.
8
Analysis of protein-coding genetic variation in 60,706 humans.对60706名人类的蛋白质编码基因变异进行分析。
Nature. 2016 Aug 18;536(7616):285-91. doi: 10.1038/nature19057.
9
Long-term cardiac prognosis and risk stratification in 260 adults presenting with mitochondrial diseases.260 例成人线粒体疾病患者的长期心脏预后和风险分层。
Eur Heart J. 2015 Nov 7;36(42):2886-93. doi: 10.1093/eurheartj/ehv307. Epub 2015 Jul 29.
10
Ventricular pre-excitation: symptomatic and asymptomatic children have the same potential risk of sudden cardiac death.心室预激：有症状和无症状的儿童发生心源性猝死的潜在风险相同。
Europace. 2015 Apr;17(4):617-21. doi: 10.1093/europace/euu191. Epub 2014 Aug 20.