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Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.

作者信息

Dos Santos Michael M, Grond-Ginsbach Caspar, Aksay Suna Su, Chen Bowang, Tchatchou Sandrine, Wolf Nicole I, van der Knaap Marjo S, Grau Armin J

出版信息

J Neurol. 2012 Mar;259(3):579-81. doi: 10.1007/s00415-011-6225-4. Epub 2011 Sep 10.

DOI:10.1007/s00415-011-6225-4
PMID:21909802
Abstract
摘要

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A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.一个常染色体显性遗传性脑白质营养不良家系与 5q23.2-q23.3 连锁,无 lamin B1 突变。
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Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.基因组重复导致伴有自主神经症状的成人发病常染色体显性脑白质营养不良(ADLD)中核纤层蛋白 B1 的过度表达。
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Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.眼齿指(趾)发育不良:一种伴有特征性脑干受累 MRI 模式的脑白质营养不良症。
AJNR Am J Neuroradiol. 2019 May;40(5):903-907. doi: 10.3174/ajnr.A6051. Epub 2019 May 2.
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Duplication and deletion upstream of in autosomal dominant adult-onset leukodystrophy.

本文引用的文献

1
Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.罕见的致病性微缺失和串联重复是由局部基因组结构介导的微同源性并受其刺激产生的。
Hum Mol Genet. 2009 Oct 1;18(19):3579-93. doi: 10.1093/hmg/ddp306. Epub 2009 Jul 3.
2
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.一个与成人起病的白质脑病相关的新型Lamin B1重复家族。
J Neurol Neurosurg Psychiatry. 2009 Feb;80(2):237-40. doi: 10.1136/jnnp.2008.147330.
3
Lamin B1 duplications cause autosomal dominant leukodystrophy.
常染色体显性成人起病性脑白质营养不良中[具体基因名称缺失]上游的重复和缺失
Neurol Genet. 2018 Dec 7;4(6):e292. doi: 10.1212/NXG.0000000000000292. eCollection 2018 Dec.
4
Disruption of microglia histone acetylation and protein pathways in mice exhibiting inflammation-associated depression-like symptoms.在表现出炎症相关抑郁样症状的小鼠中,小胶质细胞组蛋白乙酰化和蛋白通路的破坏。
Psychoneuroendocrinology. 2018 Nov;97:47-58. doi: 10.1016/j.psyneuen.2018.06.024. Epub 2018 Jun 30.
5
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.与核纤层蛋白B1相关的常染色体显性白质营养不良:临床及影像学病程
Ann Neurol. 2015 Sep;78(3):412-25. doi: 10.1002/ana.24452. Epub 2015 Jul 27.
6
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.由CSF1R基因新型R782G突变引起的成人起病的轴突球状体和色素性神经胶质细胞性白质脑病。
Sci Rep. 2015 May 15;5:10042. doi: 10.1038/srep10042.
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The nuclear envelope: an intriguing focal point for neurogenetic disease.核膜:神经遗传性疾病的一个引人关注的焦点。
Neurotherapeutics. 2014 Oct;11(4):764-72. doi: 10.1007/s13311-014-0296-8.
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Pathway deregulation and expression QTLs in response to Actinobacillus pleuropneumoniae infection in swine.猪对胸膜肺炎放线杆菌感染的通路失调与表达数量性状基因座
Mamm Genome. 2014 Dec;25(11-12):600-17. doi: 10.1007/s00335-014-9536-9. Epub 2014 Aug 14.
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Transl Neurodegener. 2014 Feb 5;3(1):4. doi: 10.1186/2047-9158-3-4.
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Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.分析常染色体显性脑白质营养不良中的 LMNB1 重复序列,有助于深入了解重复机制和等位基因特异性表达。
Hum Mutat. 2013 Aug;34(8):1160-71. doi: 10.1002/humu.22348. Epub 2013 May 28.
核纤层蛋白B1重复导致常染色体显性白质营养不良。
Nat Genet. 2006 Oct;38(10):1114-23. doi: 10.1038/ng1872. Epub 2006 Sep 3.
4
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.成人起病的常染色体显性遗传性脑白质营养不良,自主神经症状局限于5号染色体q23区域的1.5兆碱基对
Am J Med Genet B Neuropsychiatr Genet. 2006 Sep 5;141B(6):608-14. doi: 10.1002/ajmg.b.30342.
5
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.伴有自主神经症状的成人发病常染色体显性遗传性脑白质营养不良的磁共振特征及神经病理学表现
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Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.
Hum Mol Genet. 2000 Mar 22;9(5):787-93. doi: 10.1093/hmg/9.5.787.
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Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.模拟慢性进行性多发性硬化症的遗传性成人起病脑白质营养不良
N Engl J Med. 1984 Oct 11;311(15):948-53. doi: 10.1056/NEJM198410113111504.