ArticleEuropean journal of human genetics : EJHG2024
Heterozygous THBS2 pathogenic variant causes Ehlers-Danlos syndrome with prominent vascular features in humans and mice.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 -Related Disorders: Clinical Experience and Literature Review.Orthopaedic surgery · 2025Pooled it
- Spatially controlled tenascin-C accumulation contributes to inflammatory disease persistence in giant cell aortitis.JCI insight · 2026Article
- Pulmonary hemorrhage as an early clue: an integrated clinical-imaging-genetic diagnostic insight for vascular Ehlers-Danlos syndrome.Orphanet journal of rare diseases · 2026Article
- Bone matrix proteins: regulators of skeletal remodeling and repair.Journal of bone and mineral metabolism · 2026Review
- Assessment of Collagen and Fibroblast Properties via Label-Free Higher Harmonic Generation Microscopy in Three-Dimensional Models of Osteogenesis Imperfecta and Ehlers-Danlos Syndrome.International journal of molecular sciences · 2025Article
- 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
- Thrombospondin 2 drives liver metastasis in skin cutaneous melanoma via regulation of angiogenesis and extracellular matrix remodeling.Melanoma research · 2025Article
- Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report.Translational pediatrics · 2025Article
- Shaping the future of care for patients with Ehlers-Danlos syndromes: from multidisciplinary management to precision medicine.Orphanet journal of rare diseases · 2025Article
- Sexual dimorphism in the downregulation of extracellular matrix genes contributes to aortic stiffness in female mice.American journal of physiology. Heart and circulatory physiology · 2025Article
- GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.Database : the journal of biological databases and curation · 2024Article
- Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Thrombospondins: Conserved mediators and modulators of metazoan extracellular matrix.International journal of experimental pathology · 2024Review
- Novel insights into cancer predisposition genes.European journal of human genetics : EJHG · 2024Article
- VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.Human genetics · 2024Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
Abstract
Ehlers-Danlos syndromes (EDS) are a group of connective tissue disorders caused by mutations in collagen and collagen-interacting genes. We delineate a novel form of EDS with vascular features through clinical and histopathological phenotyping and genetic studies of a three-generation pedigree, displaying an apparently autosomal dominant phenotype of joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time and age-related aortic dilatation and rupture. Coagulation tests as well as platelet counts and function were normal. Reticular dermis displayed highly disorganized collagen fibers and transmission electron microscopy (TEM) revealed abnormally shaped fibroblasts and endothelial cells, with high amount and irregular shape of extracellular matrix (ECM) substance, especially near blood vessels. Genetic analysis unraveled a heterozygous mutation in THBS2 (NM_003247.5:c.2686T>C, p.Cys896Arg). We generated CRISPR/Cas9 knock-in (KI) mice, bearing the heterozygous human mutation in the mouse ortholog. The KI mice demonstrated phenotypic traits correlating with those observed in the human subjects, as evidenced by morphologic, histologic, and TEM analyses, in conjunction with bleeding time assays. Our findings delineate a novel form of human EDS with classical-like elements combined with vascular features, caused by a heterozygous THBS2 missense mutation. We further demonstrate a similar phenotype in heterozygous THBS2
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