导致 Leigh 综合征的 DNAJC30 和 NDUFA9 突变的累加效应。 - Suppr

Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

作者信息

Nesti Claudia, Ticci Chiara, Rubegni Anna, Doccini Stefano, Scaturro Giusi, Vetro Annalisa, Guerrini Renzo, Santorelli Filippo M, Procopio Elena

机构信息

Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, IRCCS Stella Maris Foundation, Via Dei Giacinti 2, 56128, Pisa, Italy.

Neuroscience Department, IRCCS Meyer Children's Hospital, Florence, Italy.

出版信息

J Neurol. 2023 Jun;270(6):3266-3269. doi: 10.1007/s00415-023-11673-7. Epub 2023 Mar 20.

DOI:10.1007/s00415-023-11673-7

PMID:36939934

Abstract

摘要

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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.导致 Leigh 综合征的 DNAJC30 和 NDUFA9 突变的累加效应。

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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome.由于 C20orf7 突变导致的复合体 I 组装缺陷是 Leigh 综合征的一个新病因。

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The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families.p.M292T NDUFS2突变在多个家族中导致了I型复合物缺乏的Leigh综合征。

Brain. 2010 Oct;133(10):2952-63. doi: 10.1093/brain/awq232. Epub 2010 Sep 6.

Mitochondrial respiratory chain disorders in the Old Order Amish population.老派阿米什人群中的线粒体呼吸链疾病。

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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.两个复合体 I 基因中的双等位基因变异导致轻度 Leigh 综合征患者出现异常剪接缺陷。

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Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.细胞色素C氧化酶缺乏症：对Leigh综合征患者的SURF1基因研究

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Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.背景为 m.11778G>A 莱伯遗传性视神经病变变异的二基因 Leigh 综合征。

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Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.基因突变是一种罕见疾病的常见病因：波兰患者的莱伯遗传性视神经病变。

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本文引用的文献

Expanding the phenotype of DNAJC30-associated Leigh syndrome.DNAJC30 相关 Leigh 综合征表型扩展。

Clin Genet. 2022 Nov;102(5):438-443. doi: 10.1111/cge.14196. Epub 2022 Jul 29.

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.DNAJC30缺陷：隐性Leber遗传性视神经病变和Leigh综合征的常见病因。

Brain. 2022 Jun 3;145(5):1624-1631. doi: 10.1093/brain/awac052.

disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.在一个大型中欧患者队列中，怀疑为莱伯遗传性视神经病变和视神经萎缩的患者中，存在致病基因变异。

J Med Genet. 2022 Oct;59(10):1027-1034. doi: 10.1136/jmedgenet-2021-108235. Epub 2022 Jan 28.

Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases. Leigh 综合征的临床、影像学、生化学和分子特征：意大利线粒体疾病网络的研究。

Orphanet J Rare Dis. 2021 Oct 9;16(1):413. doi: 10.1186/s13023-021-02029-3.

The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.下一代测序时代儿童线粒体疾病的诊断方法：一项为期4年的队列研究。

J Clin Med. 2021 Jul 22;10(15):3222. doi: 10.3390/jcm10153222.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.ATP1A2 和 ATP1A3 相关的早发性重度癫痫性脑病伴巨脑回畸形。

Brain. 2021 Jun 22;144(5):1435-1450. doi: 10.1093/brain/awab052.

DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy.DNAJC30 双等位基因突变将线粒体复合物 I 缺陷表型扩展到包括隐性莱伯遗传性视神经病变。

J Clin Invest. 2021 Mar 15;131(6). doi: 10.1172/JCI147734.

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.复合物 I 修复缺陷导致常染色体隐性遗传视神经病变。

J Clin Invest. 2021 Mar 15;131(6). doi: 10.1172/JCI138267.

Molecular basis of Leigh syndrome: a current look. Leigh 综合征的分子基础：当前的研究进展。

Orphanet J Rare Dis. 2020 Jan 29;15(1):31. doi: 10.1186/s13023-020-1297-9.

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.7q11.23 蛋白 DNAJC30 与 ATP 合酶相互作用，并将线粒体与大脑发育联系起来。

Cell. 2018 Nov 1;175(4):1088-1104.e23. doi: 10.1016/j.cell.2018.09.014.

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Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.

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