由一种新的纯合EARS2突变引起的多系统致命性婴儿疾病。 - Suppr

Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

作者信息

Talim Beril, Pyle Angela, Griffin Helen, Topaloglu Haluk, Tokatli Aysegul, Keogh Michael J, Santibanez-Koref Mauro, Chinnery Patrick F, Horvath Rita

出版信息

Brain. 2013 Feb;136(Pt 2):e228. doi: 10.1093/brain/aws197. Epub 2012 Sep 24.

DOI:10.1093/brain/aws197

PMID:23008233

Abstract

摘要

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Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.由一种新的纯合EARS2突变引起的多系统致命性婴儿疾病。

Brain. 2013 Feb;136(Pt 2):e228. doi: 10.1093/brain/aws197. Epub 2012 Sep 24.

Absent Thalami Caused by a Homozygous EARS2 Mutation: Expanding Disease Spectrum of LTBL.纯合子EARS2突变导致的丘脑缺失：扩大LTBL的疾病谱

Neuropediatrics. 2016 Jan;47(1):64-7. doi: 10.1055/s-0035-1568987. Epub 2015 Nov 30.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.伴有丘脑和脑干受累及高乳酸性的脑白质病“LTBL”，由 EARS2 突变引起。

Brain. 2012 May;135(Pt 5):1387-94. doi: 10.1093/brain/aws070. Epub 2012 Apr 4.

A compound heterozygous EARS2 mutation associated with mild leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL).一种与伴有丘脑和脑干受累及高乳酸血症的轻度白质脑病（LTBL）相关的复合杂合性EARS2突变。

Brain Dev. 2016 Oct;38(9):857-61. doi: 10.1016/j.braindev.2016.04.002. Epub 2016 Apr 23.

Remitting and exacerbating white matter lesions in leukoencephalopathy with thalamus and brainstem involvement and high lactate.伴有丘脑和脑干受累及高乳酸血症的白质脑病中的缓解性和加重性白质病变

Brain Dev. 2021 Aug;43(7):798-803. doi: 10.1016/j.braindev.2021.03.008. Epub 2021 May 4.

Identification of a Novel Variant in Associated with a Severe Clinical Phenotype Expands the Clinical Spectrum of LTBL.鉴定出与 LTBL 严重临床表型相关的新型变体，扩展了 LTBL 的临床谱。

Genes (Basel). 2020 Sep 2;11(9):1028. doi: 10.3390/genes11091028.

Broad spectrum of clinical presentation in EARS2 beyond typical "leukoencephalopathy with thalamus and brain stem involvement".EARS2的临床表现范围广泛，超出了典型的“伴有丘脑和脑干受累的白质脑病”。

J Neurol Sci. 2019 Nov 15;406:116448. doi: 10.1016/j.jns.2019.116448. Epub 2019 Sep 3.

Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings.两例携带EARS2基因新突变导致的伴有丘脑和脑干受累及高乳酸血症的白质脑病的同胞病例

J Neurol Sci. 2016 Jun 15;365:54-8. doi: 10.1016/j.jns.2016.04.008. Epub 2016 Apr 9.

B cell dysfunction in thalamus and brainstem involvement and high lactate caused by novel mutation of EARS2 gene.EARS2基因新突变导致丘脑和脑干受累时的B细胞功能障碍及高乳酸血症。

Ital J Pediatr. 2025 May 19;51(1):143. doi: 10.1186/s13052-025-01999-5.

Early-Onset Mild Type Leukoencephalopathy Caused by a Homozygous EARS2 Mutation.由纯合子EARS2突变引起的早发型轻度型白质脑病

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Mitochondrial protein synthesis and the bioenergetic cost of neurodevelopment.线粒体蛋白质合成与神经发育的生物能量消耗

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Genetic and Mitochondrial Metabolic Analyses of an Atypical Form of Leigh Syndrome.一种非典型 Leigh 综合征的遗传和线粒体代谢分析

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Metabolic impact of pathogenic variants in the mitochondrial glutamyl-tRNA synthetase EARS2.线粒体谷氨酰-tRNA 合成酶 EARS2 中致病性变异对代谢的影响。

J Inherit Metab Dis. 2021 Jul;44(4):949-960. doi: 10.1002/jimd.12387. Epub 2021 Apr 27.

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency.代谢转换为婴儿呼吸链缺陷可逆性恢复奠定基础。

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Ubiquitously Expressed Proteins and Restricted Phenotypes: Exploring Cell-Specific Sensitivities to Impaired tRNA Charging.普遍表达的蛋白质与受限表型：探究对 tRNA 加载受损的细胞特异性敏感性。

Trends Genet. 2020 Feb;36(2):105-117. doi: 10.1016/j.tig.2019.11.007. Epub 2019 Dec 12.

Mitochondrial aminoacyl-tRNA synthetase disorders: an emerging group of developmental disorders of myelination.线粒体氨酰-tRNA 合成酶障碍：一类新兴的髓鞘发育障碍性疾病。

J Neurodev Disord. 2019 Dec 16;11(1):29. doi: 10.1186/s11689-019-9292-y.

J Neurol Sci. 2019 Nov 15;406:116448. doi: 10.1016/j.jns.2019.116448. Epub 2019 Sep 3.

When a common biological role does not imply common disease outcomes: Disparate pathology linked to human mitochondrial aminoacyl-tRNA synthetases.当共同的生物学功能并不意味着共同的疾病结果时：人类线粒体氨酰-tRNA 合成酶的不同病理学关联。

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Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation.

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