ArticleAmerican journal of medical genetics. Part A2023
Comprehensive genetic screening for vascular Ehlers-Danlos syndrome through an amplification-based next-generation sequencing system.
Article in American journal of medical genetics. Part A, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 10 citations in OpenAlex.
- Splicing Alterations Associated with Multiple Homozygous TNXB Variants in a Patient with Suspected Classical-Like Ehlers-Danlos Syndrome.Biochemical genetics · 2026Article
- Fatal Aortic Rupture at Term Pregnancy Caused by Vascular Ehlers-Danlos Syndrome Diagnosed by Postmortem Genetic Testing Using Formalin-Fixed, Paraffin-Embedded Tissue.The journal of obstetrics and gynaecology research · 2026Article
- Diagnosis of vascular Ehlers Danlos syndrome and management of vascular complications: a vascular surgeons perspective.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 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
- Clinical features and morphology of collagen fibrils in patients with vascular Ehlers-Danlos based on electron microscopy.Frontiers in genetics · 2023Article
- Clinical and molecular delineation of classical-like Ehlers-Danlos syndrome through a comprehensive next-generation sequencing-based screening system.Frontiers in genetics · 2023Article
- Case report: further delineation ofFrontiers in genetics · 2023Article
Corrections and comments
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Authors and funding
26 authors at 16 institutions in 2 countries.
Funding
Abstract
Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1. This is the largest Asian case series and the first to apply an amplification-based next-generation sequencing through custom panels of causative genes for HCTDs, including a specific method of evaluating copy number variations. Among 429 patients with suspected HCTDs analyzed, 101 were suspected to have vEDS, and 33 of them (32.4%) were found to have COL3A1 variants. Two patients with a clinical diagnosis of Loeys-Dietz syndrome and/or familial thoracic aortic aneurysm and dissection were also found to have COL3A1 variants. Twenty cases (57.1%) had missense variants leading to glycine (Gly) substitutions in the triple helical domain, one (2.9%) had a missense variant leading to non-Gly substitution in this domain, eight (22.9%) had splice site alterations, three (8.6%) had nonsense variants, two (5.7%) had in-frame deletions, and one (2.9%) had a multi-exon deletion, including two deceased patients analyzed with formalin-fixed and paraffin-embedded samples. This is a clinically useful system to detect a wide spectrum of variants from various types of samples.
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