ArticleProceedings of the National Academy of Sciences of the United States of America2000
A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 120 citations in OpenAlex.
- ElevatedInternational journal of molecular sciences · 2025Article
- Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report.Molecular genetics & genomic medicine · 2025Article
- From Protein Misfolding to Extracellular Matrix Disorganisation: Understanding Disease Pathology in Rare Skeletal Dysplasias.International journal of molecular sciences · 2025Review
- Higher order interaction analysis quantifies coordination in the epigenome revealing novel biological relationships in Kabuki syndrome.Briefings in bioinformatics · 2024Article
- Exome sequencing of 1190 non-syndromic clubfoot cases revealsJournal of medical genetics · 2024Article
- Monogenic causes of familial short stature.Frontiers in endocrinology · 2024Review
- Assessment of the COL9A1 Single Nucleotide Polymorphism with Severity of clubfoot in a paediatric population along with their biological mothers.Journal of clinical orthopaedics and trauma · 2022Article
- Main and Minor Types of Collagens in the Articular Cartilage: The Role of Collagens in Repair Tissue Evaluation in Chondral Defects.International journal of molecular sciences · 2021Review
- Whole-Exome Sequencing in Idiopathic Short Stature: Rare Mutations Affecting Growth.Journal of pediatric genetics · 2021Article
- Article
- Developing Regenerative Treatments for Developmental Defects, Injuries, and Diseases Using Extracellular Matrix Collagen-Targeting Peptides.International journal of molecular sciences · 2019Review
- Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report.BMC medical genetics · 2018Article
- Advances in understanding cartilage remodeling.F1000Research · 2015Review
- COL9A1 gene polymorphism is associated with Kashin-Beck disease in a northwest Chinese Han population.PloS one · 2015Article
- Novel COL9A3 mutation in a family diagnosed with multiple epiphyseal dysplasia: a case report.BMC musculoskeletal disorders · 2014Article
- The cn/cn dwarf mouse. Histomorphometric, ultrastructural, and radiographic study in mutants corresponding to human acromesomelic dysplasia Maroteaux type (AMDM).BMC musculoskeletal disorders · 2014Article
- Comparative proteomic analysis of normal and collagen IX null mouse cartilage reveals altered extracellular matrix composition and novel components of the collagen IX interactome.The Journal of biological chemistry · 2013Article
- Mild myopathy is associated with COMP but not MATN3 mutations in mouse models of genetic skeletal diseases.PloS one · 2013Article
- A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33.PloS one · 2010Article
- COL9A2 and COL9A3 mutations in canine autosomal recessive oculoskeletal dysplasia.Mammalian genome : official journal of the International Mammalian Genome Society · 2010Article
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10 authors at 2 institutions in 1 country.
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Abstract
Multiple epiphyseal dysplasia (MED) is a degenerative cartilage condition shown in some cases to be caused by mutations in genes encoding cartilage oligomeric matrix protein or type IX collagen. We studied a family with autosomal dominant MED affecting predominantly the knee joints and a mild proximal myopathy. Genetic linkage to the COL9A3 locus on chromosome 20q13.3 was established with a peak log(10) odds ratio for linkage score of 3.87 for markers D20S93 and D20S164. Reverse transcription-PCR performed on the muscle biopsy revealed aberrant mRNA lacking exon 3, which predicted a protein lacking 12 amino acids from the COL3 domain of alpha3(IX) collagen. Direct sequencing of genomic DNA confirmed the presence of a splice acceptor mutation in intron 2 of the COL9A3 gene (intervening sequence 2, G-A, -1) only in affected family members. By electron microscopy, chondrocytes from epiphyseal cartilage exhibited dilated rough endoplasmic reticulum containing linear lamellae of alternating electron-dense and electron-lucent material, reflecting abnormal processing of mutant protein. Type IX collagen chains appeared normal in size and quantity but showed defective cross-linking by Western blotting. The novel phenotype of MED and mild myopathy is likely caused by a dominant-negative effect of the exon 3-skipping mutation in the COL9A3 gene. Patients with MED and a waddling gait but minimal radiographic hip involvement should be evaluated for a primary myopathy and a mutation in type IX collagen.
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