ArticleGenetics in medicine : official journal of the American College of Medical Genetics2020
Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus.Communications biology · 2021Pooled it
- Tendon-Targeted Knockout of Collagen XII Disrupts Murine Achilles Tendon Structure, Function, and Gene Expression at Later Stages of Postnatal Development.Annals of biomedical engineering · 2026Article
- Myopathic Ehlers-Danlos Syndrome (mEDS) Related toInternational journal of molecular sciences · 2025Review
- Novel variant of COL12A1 gene causing neonatal hypotonia and respiratory failure.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Proteomics-Based Investigation of Sexual Dimorphism in Swim Bladder Texture of Chu's Croaker (Foods (Basel, Switzerland) · 2025Article
- Advances in Molecular Function and Recombinant Expression of Human Collagen.Pharmaceuticals (Basel, Switzerland) · 2025Review
- Clinical characterization of Collagen XII-related disease caused by biallelic COL12A1 variants.Annals of clinical and translational neurology · 2025Article
- Article
- Genetic diagnosis of the Ehlers-Danlos syndromes.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Comparative Transcriptome Analysis of Bovine, Porcine, and Sheep Muscle Using Interpretable Machine Learning Models.Animals : an open access journal from MDPI · 2024Article
- Article
- The coordinated activities of collagen VI and XII in maintenance of tissue structure, function and repair: evidence for a physical interaction.Frontiers in molecular biosciences · 2024Article
- Extracellular matrix in skin diseases: The road to new therapies.Journal of advanced research · 2023Review
- Ablation of collagen XII disturbs joint extracellular matrix organization and causes patellar subluxation.iScience · 2023Article
- Collagen XII mediated cellular and extracellular mechanisms in development, regeneration, and disease.Frontiers in cell and developmental biology · 2023Review
- Targeted conditional collagen XII deletion alters tendon function.Matrix biology plus · 2022Article
- Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities.Genes · 2022Review
- Collagen XII Regulates Corneal Stromal Structure by Modulating Transforming Growth Factor-β Activity.The American journal of pathology · 2022Article
- Review
- Mechanobiology in the Comorbidities of Ehlers Danlos Syndrome.Frontiers in cell and developmental biology · 2022Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo date, heterozygous or homozygous COL12A1 variants have been reported in 13 patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome (EDS). The small number of reported patients limits thorough investigation of this newly identified syndrome, currently coined as myopathic EDS.
methodsDNA from 78 genetically unresolved patients fulfilling the clinical criteria for myopathic EDS was sequenced using a next-generation panel of COL12A1, COL6A1, COL6A2, and COL6A3.
resultsAmong this cohort, we identified four pathogenic heterozygous in-frame exon skipping (∆) defects in COL12A1, clustering to the thrombospondin N-terminal region and the adjacent collagenous domain (Δ52, Δ53, Δ54, and Δ56 respectively), one heterozygous COL12A1 arginine-to-cysteine substitution of unclear significance (p.(Arg1863Cys)), and compound heterozygous pathogenic COL6A1 variants (c.[98-6G>A];[301C>T]) in one proband. Variant-specific intracellular accumulation of collagen XII chains, extracellular overmodification of the long isoform and near-absence of the short isoform of collagen XII, and extracellular decrease of decorin and tenascin-X were observed for the COL12A1 variants. In contrast, the COL6A1 variants abolished collagen VI and V deposition and increased tenascin-X levels.
conclusionOur data further support the significant clinical overlap between myopathic EDS and collagen VI-related myopathies, and emphasize the variant-specific consequences of collagen XII defects.
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