• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

相似文献

1
Hungarian Marfan family with large deletion calls attention to copy number variation detection in the current NGS era.携带大片段缺失的匈牙利马凡氏综合征家族在当前的二代测序时代引发了对拷贝数变异检测的关注。
J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40.
2
Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience.FBN1 基因突变分析在马凡综合征患者队列中的应用：一项 10 年单中心经验。
Clin Chim Acta. 2020 Feb;501:154-164. doi: 10.1016/j.cca.2019.10.037. Epub 2019 Nov 12.
3
Large genomic fibrillin-1 (FBN1) gene deletions provide evidence for true haploinsufficiency in Marfan syndrome.大的基因组原纤维蛋白-1（FBN1）基因缺失为马凡综合征中真正的单倍剂量不足提供了证据。
Hum Genet. 2007 Aug;122(1):23-32. doi: 10.1007/s00439-007-0371-x. Epub 2007 May 10.
4
Gross deletions in FBN1 results in variable phenotypes of Marfan syndrome.FBN1 大片段缺失导致马凡综合征表型多变。
Clin Chim Acta. 2017 Nov;474:54-59. doi: 10.1016/j.cca.2017.08.023. Epub 2017 Aug 24.
5
Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome.两例马凡综合征家族病例中FBN1基因的未描述突变。
J Cardiol Cases. 2014 Sep 26;10(6):235-237. doi: 10.1016/j.jccase.2014.08.007. eCollection 2014 Dec.
6
FBN1 gene mutations in 26 Hungarian patients with suspected Marfan syndrome or related fibrillinopathies.26 名疑似马凡综合征或相关原纤维蛋白病的匈牙利患者的 FBN1 基因突变。
J Biotechnol. 2019 Aug 10;301:105-111. doi: 10.1016/j.jbiotec.2019.05.012. Epub 2019 Jun 1.
7
Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome.马凡氏综合征家系中新型致病FBN1突变的鉴定
Int J Genomics. 2018 Apr 17;2018:1246516. doi: 10.1155/2018/1246516. eCollection 2018.
8
Concurrent detection of targeted copy number variants and mutations using a myeloid malignancy next generation sequencing panel allows comprehensive genetic analysis using a single testing strategy.使用髓系恶性肿瘤二代测序panel同时检测靶向拷贝数变异和突变，可通过单一检测策略进行全面的基因分析。
Br J Haematol. 2016 Apr;173(1):49-58. doi: 10.1111/bjh.13921. Epub 2016 Jan 5.
9
Genetic testing of the FBN1 gene in Chinese patients with Marfan/Marfan-like syndrome.中国马凡氏/类马凡氏综合征患者FBN1基因的基因检测
Clin Chim Acta. 2016 Aug 1;459:30-35. doi: 10.1016/j.cca.2016.05.021. Epub 2016 May 24.
10
CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.CNV-RF是一种基于随机森林的利用下一代测序技术进行拷贝数变异检测的方法。
J Mol Diagn. 2016 Nov;18(6):872-881. doi: 10.1016/j.jmoldx.2016.07.001. Epub 2016 Sep 3.

引用本文的文献

1
Identification of two novel large deletions in FBN1 gene by next-generation sequencing and multiplex ligation-dependent probe amplification.通过下一代测序和多重连接依赖探针扩增鉴定FBN1基因中的两个新型大片段缺失。
BMC Med Genomics. 2024 Feb 5;17(1):47. doi: 10.1186/s12920-024-01822-w.
2
Correlation between large FBN1 deletions and severe cardiovascular phenotype in Marfan syndrome: Analysis of two novel cases and analytical review of the literature.马凡综合征中 FBN1 大片段缺失与严重心血管表型的相关性：两例新发病例分析及文献复习
Mol Genet Genomic Med. 2023 Jul;11(7):e2166. doi: 10.1002/mgg3.2166. Epub 2023 Mar 21.
3
Identification of a Novel 15q21.1 Microdeletion in a Family with Marfan Syndrome.一个马凡综合征家系中 15q21.1 微缺失的鉴定。
Genet Res (Camb). 2022 Apr 5;2022:3556302. doi: 10.1155/2022/3556302. eCollection 2022.
4
Case Report: Morphological Characterization and Long-Term Observation of Bilateral Sequential Internal Mammary Artery Aneurysms in a Patient With Confirmed FBN1 Mutation.病例报告：一名确诊为FBN1基因突变患者双侧序贯性乳内动脉瘤的形态学特征及长期观察
Front Cardiovasc Med. 2021 Jun 16;8:697591. doi: 10.3389/fcvm.2021.697591. eCollection 2021.
5
The Molecular Genetics of Marfan Syndrome.马凡综合征的分子遗传学。
Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021.
6
Potential predictors of severe cardiovascular involvement in Marfan syndrome: the emphasized role of genotype-phenotype correlations in improving risk stratification-a literature review.马凡综合征严重心血管受累的潜在预测因素：基因型-表型相关性在改善风险分层中的重要作用——文献综述。
Orphanet J Rare Dis. 2021 May 31;16(1):245. doi: 10.1186/s13023-021-01882-6.
7
Optimising the mutation screening strategy in Marfan syndrome and identifying genotypes with more severe aortic involvement.优化马凡综合征的突变筛查策略，并鉴定出主动脉受累更严重的基因型。
Orphanet J Rare Dis. 2020 Oct 15;15(1):290. doi: 10.1186/s13023-020-01569-4.
8
Increased visceral arterial tortuosity in Marfan syndrome.马凡综合征患者内脏动脉迂曲增加。
Orphanet J Rare Dis. 2020 Apr 15;15(1):91. doi: 10.1186/s13023-020-01369-w.

本文引用的文献

1
Clinical sequencing: From raw data to diagnosis with lifetime value.临床测序：从原始数据到具有终身价值的诊断。
Clin Genet. 2018 Mar;93(3):508-519. doi: 10.1111/cge.13190.
2
The effects of acute and elective cardiac surgery on the anxiety traits of patients with Marfan syndrome.急性和择期心脏手术对马凡综合征患者焦虑特质的影响。
BMC Psychiatry. 2017 Jul 17;17(1):253. doi: 10.1186/s12888-017-1417-9.
3
Bentall procedure: quarter century of clinical experiences of a single surgeon.Bentall手术：一位外科医生25年的临床经验
J Cardiothorac Surg. 2016 Jan 22;11:19. doi: 10.1186/s13019-016-0418-y.
4
Clinical sequencing: is WGS the better WES?临床测序：全基因组测序是否比全外显子组测序更好？
Hum Genet. 2016 Mar;135(3):359-62. doi: 10.1007/s00439-015-1631-9. Epub 2016 Jan 7.
5
Detection of Genomic Structural Variants from Next-Generation Sequencing Data.从下一代测序数据中检测基因组结构变异。
Front Bioeng Biotechnol. 2015 Jun 25;3:92. doi: 10.3389/fbioe.2015.00092. eCollection 2015.
6
Gene polymorphisms as risk factors for predicting the cardiovascular manifestations in Marfan syndrome. Role of folic acid metabolism enzyme gene polymorphisms in Marfan syndrome.基因多态性作为预测马凡综合征心血管表现的危险因素。叶酸代谢酶基因多态性在马凡综合征中的作用。
Thromb Haemost. 2015 Oct;114(4):748-56. doi: 10.1160/TH15-02-0096. Epub 2015 Jun 11.
7
New insights into the performance of human whole-exome capture platforms.人类全外显子捕获平台性能的新见解。
Nucleic Acids Res. 2015 Jun 23;43(11):e76. doi: 10.1093/nar/gkv216. Epub 2015 Mar 27.
8
Gene panel sequencing in heritable thoracic aortic disorders and related entities - results of comprehensive testing in a cohort of 264 patients.遗传性胸主动脉疾病及相关病症的基因panel测序——264例患者队列的综合检测结果
Orphanet J Rare Dis. 2015 Feb 3;10:9. doi: 10.1186/s13023-014-0221-6.
9
Possible extracardiac predictors of aortic dissection in Marfan syndrome.马凡综合征主动脉夹层的可能心脏外预测因素。
BMC Cardiovasc Disord. 2014 Apr 11;14:47. doi: 10.1186/1471-2261-14-47.
10
The role of transforming growth factor-beta in Marfan syndrome.转化生长因子-β在马凡综合征中的作用。
Cardiol J. 2013;20(3):227-34. doi: 10.5603/CJ.2013.0066.

携带大片段缺失的匈牙利马凡氏综合征家族在当前的二代测序时代引发了对拷贝数变异检测的关注。

Hungarian Marfan family with large deletion calls attention to copy number variation detection in the current NGS era.

作者信息

Benke Kálmán, Ágg Bence, Meienberg Janine, Kopps Anna M, Fattorini Nathalie, Stengl Roland, Daradics Noémi, Pólos Miklós, Bors András, Radovits Tamás, Merkely Béla, De Backer Julie, Szabolcs Zoltán, Mátyás Gábor

机构信息

Heart and Vascular Center, Semmelweis University, Budapest, Hungary.

Hungarian Marfan Foundation, Budapest, Hungary.

出版信息

J Thorac Dis. 2018 Apr;10(4):2456-2460. doi: 10.21037/jtd.2018.04.40.

DOI:10.21037/jtd.2018.04.40
PMID:29850152
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5949468/
Abstract

Copy number variations (CNVs) comprise about 10% of reported disease-causing mutations in Mendelian disorders. Nevertheless, pathogenic CNVs may have been under-detected due to the lack or insufficient use of appropriate detection methods. In this report, on the example of the diagnostic odyssey of a patient with Marfan syndrome (MFS) harboring a hitherto unreported 32-kb deletion, we highlight the need for and the feasibility of testing for CNVs (>1 kb) in Mendelian disorders in the current next-generation sequencing (NGS) era.

摘要

拷贝数变异（CNV）约占孟德尔疾病中已报道致病突变的10%。然而，由于缺乏或未充分使用适当的检测方法，致病性CNV可能未被充分检测到。在本报告中，以一名患有马凡综合征（MFS）的患者的诊断历程为例，该患者携带一个此前未报道的32 kb缺失，我们强调了在当前的新一代测序（NGS）时代对孟德尔疾病中的CNV（>1 kb）进行检测的必要性和可行性。