ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibility.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 24 citations in OpenAlex.
- Molecular heterogeneity and diagnostic performance of phenotype-driven multigene panel testing in patients with marfanoid habitus.Journal of applied genetics · 2026Article
- Identification and Structural Characterization of a Novel COL3A1 Gene Duplication in a Family With Vascular Ehlers-Danlos Syndrome.Molecular genetics & genomic medicine · 2025Article
- Clinical diagnosis of the monogenic Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Genetics architecture of spontaneous coronary artery dissection in an Italian cohort.Frontiers in cardiovascular medicine · 2024Article
- Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.American journal of medical genetics. Part A · 2023Article
- Case report and discussion: Pre-implantation genetic diagnosis with surrogacy in vascular Ehlers-Danlos syndrome.Frontiers in genetics · 2023Article
- Importance of comprehensive genetic testing for patients with suspected vascular Ehlers-Danlos syndrome: a family case report and literature review.Frontiers in genetics · 2023Article
- Two closely spaced missense COL3A1 variants in cis cause vascular Ehlers-Danlos syndrome in one large Chinese family.Journal of cellular and molecular medicine · 2022Article
- Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.Matrix biology plus · 2021Review
- Article
- A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.Molecular genetics & genomic medicine · 2021Article
- Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders.Advances in experimental medicine and biology · 2021Article
- The Ehlers-Danlos syndromes.Nature reviews. Disease primers · 2020Review
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Authors and funding
20 authors at 14 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
purposeThe Ehlers-Danlos syndromes (EDS) are a group of rare inherited connective tissue disorders. Vascular EDS (vEDS) is caused by pathogenic variants in COL3A1, most frequently glycine substitutions. We describe the phenotype of the largest series of vEDS patients with glutamic acid to lysine substitutions (Glu>Lys) in COL3A1, which were all previously considered to be variants of unknown significance.
methodsClinical and molecular data for seven families with three different Glu>Lys substitutions in COL3A1 were analyzed.
resultsThese Glu>Lys variants were reclassified from variants of unknown significance to either pathogenic or likely pathogenic in accordance with American College of Medical Genetics and Genomics guidelines. All individuals with these atypical variants exhibited skin hyperextensibility as seen in individuals with classical EDS and classical-like EDS and evidence of tissue fragility as seen in individuals with vEDS.
conclusionThe clinical data demonstrate the overlap between the different EDS subtypes and underline the importance of next-generation sequencing gene panel analysis. The three different Glu>Lys variants point toward a new variant type in COL3A1 causative of vEDS, which has consistent clinical features. This is important knowledge for COL3A1 variant interpretation. Further follow-up data are required to establish the severity of tissue fragility complications compared with patients with other recognized molecular causes of vEDS.
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