• 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

全外显子测序有助于埃勒斯-当洛斯综合征（EDS）的鉴别诊断。

Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).

机构信息

Department of Dermatology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University; The First Affiliated Hospital, Southern University of Science and Technology), Shenzhen, China.

Candidate Branch of National Clinical Research Center for Skin Diseases, Shenzhen, China.

出版信息

Mol Genet Genomic Med. 2022 Mar;10(3):e1885. doi: 10.1002/mgg3.1885. Epub 2022 Feb 4.

DOI:10.1002/mgg3.1885
PMID:35119775
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8922958/
Abstract

Ehlers-Danlos syndromes (EDSs) are a group of rare monogenic conditions with strong heterogeneity and can be caused by 20 genes associating with the essence of the extracellular matrix (ECM). This study enrolled three cases with various subtypes of EDS. Clinical evaluation and genetic testing with whole-exome sequencing (WES) were performed. The clinical manifestations of all three patients were thoroughly monitored; and three de novo diagnostic variants, namely COL5A1: NM_001278074.1: c.4609-2A>C, COL3A1: NM_000090.3: c.3554G>T(p.Gly1185Val), and COL1A1: NM_000088.3: c.545G>T(p.Gly182Val) were identified from them, respectively. The findings in this study expanded the mutation spectrum of EDS and strengthened the efficiency of WES in the differential diagnosis on disorders with overlapping phenotypes and various pathogenesis.

摘要

埃勒斯-当洛斯综合征（EDS）是一组罕见的单基因疾病，具有很强的异质性，可由 20 个与细胞外基质（ECM）本质相关的基因引起。本研究纳入了 3 例具有不同亚型 EDS 的病例。进行了临床评估和全外显子组测序（WES）的基因检测。对所有 3 名患者的临床表现进行了彻底监测；并从他们中分别鉴定出三个新诊断的变异，即 COL5A1：NM_001278074.1：c.4609-2A>C、COL3A1：NM_000090.3：c.3554G>T(p.Gly1185Val)和 COL1A1：NM_000088.3：c.545G>T(p.Gly182Val)。本研究的结果扩展了 EDS 的突变谱，并加强了 WES 在具有重叠表型和多种发病机制的疾病的鉴别诊断中的效率。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/8dbd4997c21b/MGG3-10-e1885-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/391d70168486/MGG3-10-e1885-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/8cc678452763/MGG3-10-e1885-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/a3d7bd506913/MGG3-10-e1885-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/23b5dcbc0f7d/MGG3-10-e1885-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/8dbd4997c21b/MGG3-10-e1885-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/391d70168486/MGG3-10-e1885-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/8cc678452763/MGG3-10-e1885-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/a3d7bd506913/MGG3-10-e1885-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/23b5dcbc0f7d/MGG3-10-e1885-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c910/8922958/8dbd4997c21b/MGG3-10-e1885-g002.jpg

相似文献

1
Whole-exome sequencing facilitates the differential diagnosis of Ehlers-Danlos syndrome (EDS).全外显子测序有助于埃勒斯-当洛斯综合征（EDS）的鉴别诊断。
Mol Genet Genomic Med. 2022 Mar;10(3):e1885. doi: 10.1002/mgg3.1885. Epub 2022 Feb 4.
2
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.由COL5A1基因突变引起的伴有致死性动脉事件的家族性埃勒斯-当洛综合征。
Am J Med Genet A. 2015 Jun;167(6):1196-203. doi: 10.1002/ajmg.a.36997. Epub 2015 Apr 2.
3
An overlapping phenotype of Osteogenesis imperfecta and Ehlers-Danlos syndrome due to a heterozygous mutation in COL1A1 and biallelic missense variants in TNXB identified by whole exome sequencing.通过全外显子组测序鉴定出由于COL1A1杂合突变和TNXB双等位基因错义变异导致的成骨不全和埃勒斯-当洛综合征重叠表型。
Am J Med Genet A. 2016 Apr;170A(4):1080-5. doi: 10.1002/ajmg.a.37547. Epub 2016 Jan 22.
4
Compound phenotype of osteogenesis imperfecta and Ehlers-Danlos syndrome caused by combined mutations in and .成骨不全症和埃勒斯-当洛斯综合征的复合表型由 和 基因的复合突变引起。
Biosci Rep. 2019 Jul 25;39(7). doi: 10.1042/BSR20181409. Print 2019 Jul 31.
5
A patient with a novel pathogenic variant in COL5A1 exhibiting prominent vascular and cardiac features.一位携带 COL5A1 新型致病性变异的患者，表现出明显的血管和心脏特征。
Am J Med Genet A. 2022 Jul;188(7):2192-2197. doi: 10.1002/ajmg.a.62745. Epub 2022 Apr 9.
6
Arterial rupture in classic Ehlers-Danlos syndrome with COL5A1 mutation.经典型埃勒斯-当洛斯综合征伴 COL5A1 突变导致的动脉破裂。
Am J Med Genet A. 2010 Aug;152A(8):2090-3. doi: 10.1002/ajmg.a.33541.
7
Expanding the Clinical and Mutational Spectrum of Recessive -Related Classical-Like Ehlers-Danlos Syndrome.隐性相关经典型 Ehlers-Danlos 综合征的临床和突变谱扩大。
Genes (Basel). 2019 Feb 12;10(2):135. doi: 10.3390/genes10020135.
8
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.靶向新一代测序技术为埃勒斯-当洛综合征带来了新的分子诊断，并拓展了其基因型-表型关系。
Genet Med. 2016 Nov;18(11):1119-1127. doi: 10.1038/gim.2016.14. Epub 2016 Mar 24.
9
Low penetrance COL5A1 variants in a young patient with intracranial aneurysm and very mild signs of Ehlers-Danlos syndrome.在一位颅内动脉瘤且仅有非常轻微的埃勒斯-当洛斯综合征表现的年轻患者中发现低外显率 COL5A1 变异。
Eur J Med Genet. 2021 Jan;64(1):104099. doi: 10.1016/j.ejmg.2020.104099. Epub 2020 Nov 12.
10
Identification of the novel COL5A1 c.3369_3431dup, p.(Glu1124_Gly1144dup) variant in a patient with incomplete classical Ehlers-Danlos syndrome: The importance of phenotype-guided genetic testing.在一名不完全性经典型埃勒斯-当洛斯综合征患者中鉴定出新的 COL5A1 c.3369_3431dup，p.（Glu1124_Gly1144dup）变异：表型指导下基因检测的重要性。
Mol Genet Genomic Med. 2020 Oct;8(10):e1422. doi: 10.1002/mgg3.1422. Epub 2020 Jul 28.

引用本文的文献

1
Hybridized deep learning goniometry for improved precision in Ehlers-Danlos Syndrome (EDS) evaluation.杂交深度学习测角术提高埃勒斯-当洛斯综合征（EDS）评估的精度。
BMC Med Inform Decis Mak. 2024 Jul 18;24(1):196. doi: 10.1186/s12911-024-02601-4.
2
Identification of novel variations in three cases with rare inherited neuromuscular disorder.三例罕见遗传性神经肌肉疾病患者新变异的鉴定
Exp Ther Med. 2024 Apr 29;27(6):270. doi: 10.3892/etm.2024.12558. eCollection 2024 Jun.
3
Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.

本文引用的文献

1
Clinical and genetic analysis of classical Ehlers-Danlos syndrome patient caused by synonymous mutation in COL5A2.COL5A2 同义突变致经典型 Ehlers-Danlos 综合征的临床及遗传学分析
Mol Genet Genomic Med. 2021 May;9(5):e1632. doi: 10.1002/mgg3.1632. Epub 2021 Apr 8.
2
The Ehlers-Danlos syndromes.埃勒斯-当洛斯综合征。
Nat Rev Dis Primers. 2020 Jul 30;6(1):64. doi: 10.1038/s41572-020-0194-9.
3
Obesity surgery and Ehlers-Danlos syndrome: challenges and considerations based on a case report.肥胖症手术与埃勒斯-当洛综合征：基于一例病例报告的挑战与思考
疑似血管性埃勒斯-当洛综合征患者全面基因检测的重要性：一例家族病例报告及文献综述
Front Genet. 2023 Dec 20;14:1246712. doi: 10.3389/fgene.2023.1246712. eCollection 2023.
4
Genetic analysis of seven pateints with Hereditary Multiple Osteochondromas (HMO).对七名遗传性多发性骨软骨瘤（HMO）患者的基因分析。
Am J Transl Res. 2022 Sep 15;14(9):6303-6312. eCollection 2022.
Ann R Coll Surg Engl. 2020 Jan;102(1):e7-e11. doi: 10.1308/rcsann.2019.0122. Epub 2019 Sep 18.
4
Molecular insights in the pathogenesis of classical Ehlers-Danlos syndrome from transcriptome-wide expression profiling of patients' skin fibroblasts.从患者皮肤成纤维细胞的转录组全表达谱分析中获得经典型 Ehlers-Danlos 综合征发病机制的分子见解。
PLoS One. 2019 Feb 4;14(2):e0211647. doi: 10.1371/journal.pone.0211647. eCollection 2019.
5
Vascular aspects of the Ehlers-Danlos Syndromes.血管性埃勒斯-当洛斯综合征。
Matrix Biol. 2018 Oct;71-72:380-395. doi: 10.1016/j.matbio.2018.04.013. Epub 2018 Apr 27.
6
Transcriptome analysis of skin fibroblasts with dominant negative COL3A1 mutations provides molecular insights into the etiopathology of vascular Ehlers-Danlos syndrome.对具有显性负性COL3A1突变的皮肤成纤维细胞进行转录组分析，为血管性埃勒斯-当洛综合征的病因病理学提供了分子层面的见解。
PLoS One. 2018 Jan 18;13(1):e0191220. doi: 10.1371/journal.pone.0191220. eCollection 2018.
7
Characteristics, Diagnosis, and Management of Ehlers-Danlos Syndromes: A Review.埃勒斯-当洛斯综合征的特征、诊断和管理：综述。
JAMA Facial Plast Surg. 2018 Jan 1;20(1):70-75. doi: 10.1001/jamafacial.2017.0793.
8
Osteogenesis imperfecta.成骨不全症。
Nat Rev Dis Primers. 2017 Aug 18;3:17052. doi: 10.1038/nrdp.2017.52.
9
The 2017 international classification of the Ehlers-Danlos syndromes.2017年埃勒斯-当洛综合征国际分类法。
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.
10
The Ehlers-Danlos syndromes, rare types.埃勒斯-当洛综合征，罕见类型。
Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):70-115. doi: 10.1002/ajmg.c.31550.