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Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.

作者信息

Henning Franclo, Naidu Kireshnee, Record Christopher J, Dominik Natalia, Vandrovcova Jana, Lubbe Frans, Dercksen Marli, Wilson Lindsay A, Van Der Westhuizen Francois, Reilly Mary M, Houlden Henry, Hanna Michael G, Carr Jonathan

机构信息

Division of Neurology, Department of Medicine, Stellenbosch University, Cape Town, South Africa.

Neurology Research Group, Division of Neurology, Department of Medicine, University of Cape Town, Cape Town, South Africa.

出版信息

Mov Disord Clin Pract. 2024 Oct;11(10):1298-1300. doi: 10.1002/mdc3.14178. Epub 2024 Aug 2.

DOI:10.1002/mdc3.14178
PMID:39092477
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11489608/
Abstract
摘要

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Extended Phenotype of PEX11B Pathogenic Variants: Ataxia, Tremor, and Dystonia Due to a Novel C.2T > G Variant.PEX11B致病变异的扩展表型：一种新型C.2T＞G变异导致的共济失调、震颤和肌张力障碍
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本文引用的文献

1
Neuromuscular disease genetics in under-represented populations: increasing data diversity.代表性不足人群中的神经肌肉疾病遗传学：增加数据多样性。
Brain. 2023 Dec 1;146(12):5098-5109. doi: 10.1093/brain/awad254.
2
Variant analysis of PEX11B gene from a family with peroxisome biogenesis disorder 14B by whole exome sequencing.通过全外显子组测序分析 14B 型过氧化物酶体生物发生障碍家系中 PEX11B 基因的变异。
Mol Genet Genomic Med. 2020 Jan;8(1). doi: 10.1002/mgg3.1042. Epub 2019 Nov 13.
3
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.
新型PEX11B突变扩展了过氧化物酶体生物发生障碍14B的表型谱，并强调先天性白内障是其早期特征。
Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):594-603. doi: 10.1167/iovs.16-21026.
4
Human disorders of peroxisome metabolism and biogenesis.人类过氧化物酶体代谢与生物发生紊乱。
Biochim Biophys Acta. 2016 May;1863(5):922-33. doi: 10.1016/j.bbamcr.2015.11.015. Epub 2015 Nov 22.
5
Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.脑肝肾综合征谱系障碍：成年存活患者的临床表现
J Inherit Metab Dis. 2016 Jan;39(1):93-106. doi: 10.1007/s10545-015-9880-2. Epub 2015 Aug 19.
6
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.
7
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.一种新型的过氧化物酶体分裂缺陷，由于 PEX11β 基因的纯合无义突变所致。
J Med Genet. 2012 May;49(5):307-13. doi: 10.1136/jmedgenet-2012-100778.
8
Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene.鉴定由 PEX16 基因突变引起的一种不常见的过氧化物酶体生物发生障碍的变异体。
J Med Genet. 2010 Sep;47(9):608-15. doi: 10.1136/jmg.2009.074302. Epub 2010 Jul 20.
9
Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.过氧化物酶体生物合成障碍的泽尔韦格综合征谱系中新型突变和序列变异的鉴定。
Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.