ArticleAmerican journal of medical genetics. Part A2019
Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.
Article in American journal of medical genetics. Part A, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 19 citations in OpenAlex.
- Confirmation of frameshift variants in the last exon of FGFR1 as a cause of multiple epiphyseal dysplasia.European journal of human genetics : EJHG · 2026Article
- Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease.Diagnostics (Basel, Switzerland) · 2026Article
- [Relationship Between the Expression of Human Matricellular Protein 3 and the Pathological Features, Drug Resistance, and Prognosis of Gastric Cancer Based on Immunohistochemical Method].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Article
- Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.Orphanet journal of rare diseases · 2024Article
- Article
- Does early and aggressive management of significant extrusion of the femoral head affect the outcome of Perthes' disease with the age of onset younger than 7 years?Musculoskeletal surgery · 2022Article
- A Novel Mutation c.3392G>T ofFrontiers in genetics · 2022Article
- A NovelBioMed research international · 2021Article
- Identification of MATN3 as a Novel Prognostic Biomarker for Gastric Cancer through Comprehensive TCGA and GEO Data Mining.Disease markers · 2021Article
- A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.BMC medical genetics · 2020Article
- Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients withInternational journal of biological sciences · 2020Article
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Mutations in the COMP, COL9A1, COL9A2, COL9A3, MATN3, and SLC26A2 genes cause approximately 70% of multiple epiphyseal dysplasia (MED) cases. The genetic changes involved in the etiology of the remaining cases are still unknown, suggesting that other genes contribute to MED development. Our goal was to identify a mutation causing an autosomal dominant form of MED in a large multigenerational family. Initially, we excluded all genes known to be associated with autosomal dominant MED by using microsatellite and SNP markers. Follow-up with whole-exome sequencing analysis revealed a mutation c.2032G>A (p.Gly678Arg) in the COL2A1 gene (NCBI Reference Sequence: NM_001844.4), which co-segregated with the disease phenotype in this family, manifested by severe hip dysplasia and osteoarthritis. One of the affected family members had a double-layered patella, which is frequently seen in patients with autosomal recessive MED caused by DTDST mutations and sporadically in the dominant form of MED caused by COL9A2 defect.
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