ArticleEuropean journal of human genetics : EJHG2015
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Article in European journal of human genetics : EJHG, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02597361 (Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome), which is not on this map. Cited by 116 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Angiotensin II Receptor Blockade in Vascular Ehlers Danlos Syndrome: a Double Blind, Randomized, Placebo Controlled, Multicenter Trial.
Who cites it
116 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- Prevalence of vascular complications in Ehlers-Danlos syndrome: a systematic review and meta-analysis.Orphanet journal of rare diseases · 2025Pooled it
- Extracutaneous features and complications of the Ehlers-Danlos syndromes: A systematic review.Frontiers in medicine · 2023Pooled it
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.Journal of applied genetics · 2026Article
- Human iPSC-derived heart valve-like assembloids model valve development and disease pathology.Cell stem cell · 2026Article
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Article
- Pregnancy in women with vascular Ehlers-Danlos syndrome: a case series from the registry of pregnancy and cardiac disease (ROPAC) III.International journal of cardiology. Congenital heart disease · 2026Article
- Pregnancy and Delivery Outcomes in Vascular Ehlers-Danlos Syndrome: A Retrospective Multicentre Cohort Study.BJOG : an international journal of obstetrics and gynaecology · 2026Article
- Preparation of Uniform PEG-PLLA Microspheres via Membrane Emulsification for Soft Tissue Filling Applications.Journal of functional biomaterials · 2026Article
- Vascular Ehlers-Danlos Syndrome Diagnosed after Cerebral Infarction with a Subarachnoid Hemorrhage.Internal medicine (Tokyo, Japan) · 2026Article
- Pulmonary vascular Ehlers-Danlos syndrome with hemoptysis as the main manifestation: CT and histologic findings of lung parenchymal damage.Orphanet journal of rare diseases · 2025Article
- Vascular Ehlers Danlos Syndrome and Chromosome 2q32 Microdeletion Syndrome.European journal of human genetics : EJHG · 2025Review
- An Integrative Genotyping and Gene Expression Profiling of the Mutated Human FAM111B Gene and Fibrosis-Associated Pathway in the POIKTMP Syndrome.Journal of cellular and molecular medicine · 2025Article
- A novel COL3A1 gene variant associated with sudden death due to spontaneous pneumothorax.Forensic science, medicine, and pathology · 2025Article
- Procedural decisions in the context of vascular substrate vulnerability: Lessons from vascular Ehlers-Danlos syndrome.Journal of vascular surgery cases and innovative techniques · 2025Article
- The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome.Cell death discovery · 2025Article
- Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos Syndrome.Molecular genetics & genomic medicine · 2025Article
- Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.Orphanet journal of rare diseases · 2025Article
- Vascular Ehlers-Danlos syndrome in children: evaluating the importance of diagnosis and follow-up during childhood.European journal of human genetics : EJHG · 2025Article
56 more citing papers are in PubMed but not listed here.
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were analysed. We found 126 distincts variants that were divided into five groups: (1) Glycine substitutions (n=71), (2) splice-site and in-frame insertions-deletions (n=36), (3) variants leading to haplo-insufficiency (n=7), (4) non-glycine missense variants within the triple helix (n=4 variants), and (5) non-glycine missense variants or in-frame insertions-deletions, in the N- or C-terminal part of the protein (n=8). Overall, our cohort confirmed the severity of the disease with a median age at first complication of 29 years (IQR 22-39), the most frequent being arterial (48%) and digestive (24%) ruptures. Groups 2 and 1 were significantly more severe than groups 3-5, with extreme median ages at first major complication of 23-47 years. Patients of groups 3-5 had a less typical phenotype and remarkably absence of digestive events. The distribution of glycine-replacing amino acids was strongly biased towards more destabilizing residues of the collagen assembly. Thus the natural course of vEDS and the clinical phenotype of patients are influenced by the type of COL3A1 variant. This study also confirms that patients with variants located in the C- and N-termini or leading to haplo-insufficiency have milder course of the disease and less prevalent diagnostic criteria. These findings may help refine diagnostic strategy, genetic counselling and clinical care.
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