56例早发性肌张力障碍患者VPS16基因的突变 - Suppr

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Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

作者信息

Li Xin-Yao, Wang Lin, Guo Yi, Wan Xin-Hua

机构信息

Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Beijing, China.

出版信息

Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.

DOI:10.1002/mds.28540

PMID:33595841

Abstract

摘要

相似文献

Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.

Mutation screening of VPS16 gene in patients with isolated dystonia.

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Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

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Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".

Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

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A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.

Mov Disord. 2021 Mar;36(3):609. doi: 10.1002/mds.28511. Epub 2021 Jan 26.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.

MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.

Mov Disord. 2023 Mar;38(3):507-508. doi: 10.1002/mds.29327. Epub 2023 Jan 20.

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

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引用本文的文献

-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Tremor Other Hyperkinet Mov (N Y). 2025 Jul 7;15:30. doi: 10.5334/tohm.1030. eCollection 2025.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

medRxiv. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741.

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.

Mov Disord Clin Pract. 2025 Feb;12(2):236-238. doi: 10.1002/mdc3.14250. Epub 2024 Nov 6.

A Novel Pattern of Dystonia in DYT-: "Speaking in Tongues".

Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023.

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.

Neurol Res Pract. 2022 May 30;4(1):21. doi: 10.1186/s42466-022-00185-w.

De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.

Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.

Transcript-Specific Loss-of-Function Variants in Are Enriched in Patients With Dystonia.

Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb.

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相似文献

Mutations in the VPS16 Gene in 56 Early-Onset Dystonia Patients.

Mov Disord. 2021 Mar;36(3):780-781. doi: 10.1002/mds.28540. Epub 2021 Feb 17.

Mutation screening of VPS16 gene in patients with isolated dystonia.

Parkinsonism Relat Disord. 2021 Feb;83:63-65. doi: 10.1016/j.parkreldis.2020.12.014. Epub 2021 Jan 12.

Truncating VPS16 Mutations Are Rare in Early Onset Dystonia.

Ann Neurol. 2021 Mar;89(3):625-626. doi: 10.1002/ana.25990. Epub 2020 Dec 28.

Reply to "Truncating VPS16 Mutations are Rare in Early-Onset Dystonia".

Ann Neurol. 2021 Mar;89(3):626. doi: 10.1002/ana.25988. Epub 2020 Dec 22.

Homozygous mutation of VPS16 gene is responsible for an autosomal recessive adolescent-onset primary dystonia.

Sci Rep. 2016 May 12;6:25834. doi: 10.1038/srep25834.

A Recurrent VPS16 p.Arg187* Nonsense Variant in Early-Onset Generalized Dystonia.

Mov Disord. 2021 Aug;36(8):1984-1985. doi: 10.1002/mds.28647. Epub 2021 May 17.

VPS16 and VPS41: The List of Genes Causing Early-Onset Dystonia Keeps Expanding.

Mov Disord. 2021 Mar;36(3):609. doi: 10.1002/mds.28511. Epub 2021 Jan 26.

Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.

Ann Neurol. 2020 Nov;88(5):867-877. doi: 10.1002/ana.25879. Epub 2020 Sep 21.

MDSGene: Extending the List of Isolated Dystonia Genes by VPS16, EIF2AK2, and AOPEP.

Mov Disord. 2023 Mar;38(3):507-508. doi: 10.1002/mds.29327. Epub 2023 Jan 20.

Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.

Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28.

引用本文的文献

-Associated Dystonia: A Cohort-Based Clinical, Imaging and Genetic Profile.

Tremor Other Hyperkinet Mov (N Y). 2025 Jul 7;15:30. doi: 10.5334/tohm.1030. eCollection 2025.

Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.

medRxiv. 2024 Dec 5:2024.12.02.24316741. doi: 10.1101/2024.12.02.24316741.

Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.

Mov Disord Clin Pract. 2025 Feb;12(2):236-238. doi: 10.1002/mdc3.14250. Epub 2024 Nov 6.

A Novel Pattern of Dystonia in DYT-: "Speaking in Tongues".

Neurol Genet. 2024 Jul 8;10(4):e200154. doi: 10.1212/NXG.0000000000200154. eCollection 2024 Aug.

Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.

Mov Disord Clin Pract. 2024 Jan;11(1):87-93. doi: 10.1002/mdc3.13927. Epub 2023 Dec 12.

Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.

Front Genet. 2023 Jul 17;14:1198821. doi: 10.3389/fgene.2023.1198821. eCollection 2023.

Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.

Neurol Res Pract. 2022 May 30;4(1):21. doi: 10.1186/s42466-022-00185-w.

De Novo Missense Mutation of in a Chinese Patient with Generalized Dystonia with Myoclonus.

Mov Disord Clin Pract. 2021 Dec 26;9(4):551-552. doi: 10.1002/mdc3.13392. eCollection 2022 May.

Transcript-Specific Loss-of-Function Variants in Are Enriched in Patients With Dystonia.

Neurol Genet. 2021 Dec 7;8(1):e644. doi: 10.1212/NXG.0000000000000644. eCollection 2022 Feb.