ArticleScientific reports2022
Novel missense ACAN gene variants linked to familial osteochondritis dissecans cluster in the C-terminal globular domain of aggrecan.
Article in Scientific reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Research progress of short stature and advanced bone age, early-onset osteoarthritis and osteochondritis dissecans (SSOAOD) caused by acan gene mutation.Frontiers in endocrinology · 2026Pooled it
- The Osteoimmunologic Basis of Biologic and Bioengineered Therapies in Osteoarthritis.Biomedicines · 2026Review
- Phenotypic and genotypic diversity in patients with Chinese aggrecan gene-related short stature.Pediatric research · 2026Article
- Aggrecanopathy as an Underrecognized Cause of Idiopathic Short Stature: The Importance of Early Genetic Confirmation for Timely Diagnosis and Management-Case Reports and Literature Review.Diseases (Basel, Switzerland) · 2026Article
- Injectable hydrogel microspheres delivering cartilage-targeted LGR5-engineered exosomes for osteoarthritis therapy.Materials today. Bio · 2026Article
- Etiology, diagnosis and treatment of lumbar disc degeneration: a focus on the mechanism of action of Piezo1 and research perspectives.Frontiers in cell and developmental biology · 2026Review
- Article
- Single-cell transcriptomic analysis of chondrocytes in cartilage and pathogenesis of osteoarthritis.Genes & diseases · 2025Article
- Integrative analyses of mendelian randomization and bioinformatics reveal casual relationship and genetic links between COVID-19 and knee osteoarthritis.BMC medical genomics · 2025Article
- Review
- Bilateral juvenile osteochondrosis dissecans in monozygotic twins: a case report.Journal of orthopaedic surgery and research · 2024Article
- Proteoglycan Dysfunction: A Common Link Between Intervertebral Disc Degeneration and Skeletal Dysplasia.Neurospine · 2024Article
- Aggrecan-related bone disorders; a novel heterozygous ACAN variant associated with spondyloepimetaphyseal dysplasia expanding the phenotypic spectrum and review of literature.Journal, genetic engineering & biotechnology · 2024Article
- Aggrecan governs intervertebral discs development by providing critical mechanical cues of the extracellular matrix.Frontiers in bioengineering and biotechnology · 2023Article
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Authors and funding
13 authors at 5 institutions in 4 countries.
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No grant is acknowledged in the PubMed record.
Abstract
The cartilage aggrecan proteoglycan is crucial for both skeletal growth and articular cartilage function. A number of aggrecan (ACAN) gene variants have been linked to skeletal disorders, ranging from short stature to severe chondrodyplasias. Osteochondritis dissecans is a disorder where articular cartilage and subchondral bone fragments come loose from the articular surface. We previously reported a missense ACAN variant linked to familial osteochondritis dissecans, with short stature and early onset osteoarthritis, and now describe three novel ACAN gene variants from additional families with this disorder. Like the previously described variant, these are autosomal dominant missense variants, resulting in single amino acid residue substitutions in the C-type lectin repeat of the aggrecan G3 domain. Functional studies showed that neither recombinant variant proteins, nor full-length variant aggrecan proteoglycan from heterozygous patient cartilage, were secreted to the same level as wild-type aggrecan. The variant proteins also showed decreased binding to known cartilage extracellular matrix ligands. Mapping these and other ACAN variants linked to hereditary skeletal disorders showed a clustering of osteochondritis dissecans-linked variants to the G3 domain. Taken together, this supports a link between missense ACAN variants affecting the aggrecan G3 domain and hereditary osteochondritis dissecans.
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