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A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.

作者信息

Khaleeli Zhaleh, Jaunmuktane Zane, Beaufort Nathalie, Houlden Henry, Haffner Christof, Brandner Sebastian, Dichgans Martin, Werring David

机构信息

National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, England, UK.

出版信息

J Neurol. 2015 May;262(5):1369-72. doi: 10.1007/s00415-015-7769-5. Epub 2015 May 10.

DOI:10.1007/s00415-015-7769-5
PMID:25957642
Abstract
摘要

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A novel HTRA1 exon 2 mutation causes loss of protease activity in a Pakistani CARASIL patient.一种新的HTRA1外显子2突变导致一名巴基斯坦CARASIL患者的蛋白酶活性丧失。
J Neurol. 2015 May;262(5):1369-72. doi: 10.1007/s00415-015-7769-5. Epub 2015 May 10.
2
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.在中国CARASIL家系中鉴定出HTRA1基因的一种新突变。
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Features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病的特征。
Stroke. 2014 Nov;45(11):3447-53. doi: 10.1161/STROKEAHA.114.004236. Epub 2014 Aug 12.
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A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).在中国一个患有伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病（CARASIL）的家族中，高温需求A丝氨酸蛋白酶1（HTRA1）基因的一种新型突变。
J Int Med Res. 2013 Oct;41(5):1445-55. doi: 10.1177/0300060513480926. Epub 2013 Aug 20.
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A CARASIL Patient from Americas with Novel Mutation and Atypical Features: Case Presentation and Literature Review.一位来自美洲的伴有新突变和非典型特征的CARASIL患者：病例报告及文献综述
Cerebrovasc Dis. 2017;44(3-4):135-140. doi: 10.1159/000477358. Epub 2017 Jun 21.
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Two novel HTRA1 mutations in a European CARASIL patient.一名欧洲CARASIL患者中的两种新型HTRA1突变。
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One Disease with two Faces: Semidominant Inheritance of a Novel HTRA1 Mutation in a Consanguineous Family.一种疾病两种表现：一个近亲家系中新型 HTRA1 突变的半显性遗传。
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A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population.HTRA1基因的移码突变将CARASIL综合征和外周小动脉疾病扩展至中国人群。
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Heterozygous HTRA1 mutations with mimicking symptoms of CARASIL in two families.两个家族中具有类CARASIL症状的杂合HTRA1突变
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Genetically Confirmed CARASIL: Case Report with Novel HTRA1 Mutation and Literature Review.遗传性脑动脉病伴皮质下梗死和白质脑病（CARASIL）的基因确诊病例报告：伴有新 HTRA1 突变及文献复习。
World Neurosurg. 2020 Nov;143:121-128. doi: 10.1016/j.wneu.2020.05.128. Epub 2020 May 21.

引用本文的文献

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Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.病例报告：HTRA1基因杂合突变导致典型的伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病
Front Genet. 2023 Sep 18;14:1235650. doi: 10.3389/fgene.2023.1235650. eCollection 2023.
2
Heterozygous Mutations Cause Cerebral Small Vessel Diseases: Genetic, Clinical, and Pathologic Findings From 3 Chinese Pedigrees.杂合突变导致脑小血管病：来自3个中国家系的遗传、临床和病理发现
Neurol Genet. 2022 Dec 5;8(6):e200044. doi: 10.1212/NXG.0000000000200044. eCollection 2022 Dec.
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本文引用的文献

1
Cerebral small vessel disease-related protease HtrA1 processes latent TGF-β binding protein 1 and facilitates TGF-β signaling.与脑小血管病相关的蛋白酶HtrA1可加工潜伏性转化生长因子-β结合蛋白1并促进转化生长因子-β信号传导。
Proc Natl Acad Sci U S A. 2014 Nov 18;111(46):16496-501. doi: 10.1073/pnas.1418087111. Epub 2014 Nov 4.
2
Inhibition of serotonin reuptake by antidepressants and cerebral microbleeds in the general population.抗抑郁药抑制 5-羟色胺再摄取与普通人群的脑微出血。
Stroke. 2014 Jul;45(7):1951-7. doi: 10.1161/STROKEAHA.114.004990. Epub 2014 May 29.
3
Mutation in the HTRA1 gene in a patient with degenerated spine as a component of CARASIL syndrome.
Report of two pedigrees with heterozygous HTRA1 variants-related cerebral small vessel disease and literature review.
两例携带杂合 HTRA1 变异的脑小血管病家系报告及文献复习。
Mol Genet Genomic Med. 2022 Oct;10(10):e2032. doi: 10.1002/mgg3.2032. Epub 2022 Aug 10.
4
-Related Cerebral Small Vessel Disease: A Review of the Literature.- 相关脑小血管病：文献综述
Front Neurol. 2020 Jul 3;11:545. doi: 10.3389/fneur.2020.00545. eCollection 2020.
5
HTRA1 Mutations Identified in Symptomatic Carriers Have the Property of Interfering the Trimer-Dependent Activation Cascade.在有症状携带者中鉴定出的HTRA1突变具有干扰三聚体依赖性激活级联反应的特性。
Front Neurol. 2019 Jun 28;10:693. doi: 10.3389/fneur.2019.00693. eCollection 2019.
一名患有作为CARASIL综合征组成部分的脊柱退变患者的HTRA1基因突变。
Turk Neurosurg. 2014;24(1):67-9. doi: 10.5137/1019-5149.JTN.6226-12.1.
4
Two novel HTRA1 mutations in a European CARASIL patient.一名欧洲CARASIL患者中的两种新型HTRA1突变。
Neurology. 2014 Mar 11;82(10):898-900. doi: 10.1212/WNL.0000000000000202. Epub 2014 Feb 5.
5
A novel mutation of the high-temperature requirement A serine peptidase 1 (HTRA1) gene in a Chinese family with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL).在中国一个患有伴有皮质下梗死和白质脑病的常染色体隐性遗传性脑动脉病（CARASIL）的家族中，高温需求A丝氨酸蛋白酶1（HTRA1）基因的一种新型突变。
J Int Med Res. 2013 Oct;41(5):1445-55. doi: 10.1177/0300060513480926. Epub 2013 Aug 20.
6
A novel mutation in the HTRA1 gene identified in Chinese CARASIL pedigree.在中国CARASIL家系中鉴定出HTRA1基因的一种新突变。
CNS Neurosci Ther. 2012 Oct;18(10):867-9. doi: 10.1111/j.1755-5949.2012.00373.x. Epub 2012 Aug 20.
7
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.脑常染色体隐性遗传性动脉病伴皮质下梗死和白质脑病（CARASIL）：从发现到基因鉴定。
J Stroke Cerebrovasc Dis. 2011 Mar-Apr;20(2):85-93. doi: 10.1016/j.jstrokecerebrovasdis.2010.11.008. Epub 2011 Jan 7.
8
A missense HTRA1 mutation expands CARASIL syndrome to the Caucasian population.一种错义HTRA1突变将CARASIL综合征扩展至白种人群。
Neurology. 2010 Nov 30;75(22):2033-5. doi: 10.1212/WNL.0b013e3181ff96ac.
9
Review: molecular genetics and pathology of hereditary small vessel diseases of the brain.综述：遗传性脑小血管病的分子遗传学与病理学
Neuropathol Appl Neurobiol. 2011 Feb;37(1):94-113. doi: 10.1111/j.1365-2990.2010.01147.x.
10
Association of HTRA1 mutations and familial ischemic cerebral small-vessel disease.HTRA1基因突变与家族性缺血性脑小血管病的关联。
N Engl J Med. 2009 Apr 23;360(17):1729-39. doi: 10.1056/NEJMoa0801560.