ArticlePloS one2014
A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calvé-Perthes disease or avascular necrosis of the femoral head.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- Association ofGenes · 2025Article
- Progress in understanding Legg-Calvé-Perthes disease etiology from a molecular and cellular biology perspective.Frontiers in physiology · 2025Review
- Clinical Image: Avascular necrosis of the femoral head driven by the COL2A1 gene mutation.ACR open rheumatology · 2025Article
- No correlation to collagen synthesis disorders in patients with Perthes' disease: a nationwide Swedish register study of 3488 patients.BMC musculoskeletal disorders · 2024Article
- Association between Polymorphism eNOS4, tPA, Factor V Leiden, Prothrombin, and Methylenetetrahydrofolate Reductase and the Occurrence of Legg-Calvé-Perthes Disease.Journal of clinical medicine · 2023Article
- Molecular Biomarkers in Perthes Disease: A Review.Diagnostics (Basel, Switzerland) · 2023Review
- 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
- Association of MTHFR rs1801133 and homocysteine with Legg-Calvé-Perthes disease in Mexican patients.Orphanet journal of rare diseases · 2022Article
- Downregulation of growth plate genes involved with the onset of femoral head separation in young broilers.Frontiers in physiology · 2022Article
- Microarray analysis of lncRNA and mRNA expression profiles in patients with Legg-Calve-Perthes disease.Frontiers in pediatrics · 2022Article
- Perthes Disease in a Child With Osteogenesis Imperfecta From a Rare Genetic Variant: A Case Report.Frontiers in genetics · 2022Article
- A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.BMC medical genomics · 2021Article
- Article
- Gene testing for osteonecrosis of the femoral head in systemic lupus erythematosus using targeted next-generation sequencing: A pilot study.World journal of clinical cases · 2020Article
- Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia.American journal of medical genetics. Part A · 2019Article
- Aetiology of Legg-Calvé-Perthes disease: A systematic review.World journal of orthopedics · 2019Article
- Association of MTHFR and TNF-α genes polymorphisms with susceptibility to Legg-Calve-Perthes disease in Iranian children: A case-control study.Journal of orthopaedics · 2018Article
- COL2A1 mutation (c.3508G>A) leads to avascular necrosis of the femoral head in a Chinese family: A case report.Molecular medicine reports · 2018Article
- Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X.Cell stress & chaperones · 2016Review
- Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveMutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD) and avascular necrosis of the femoral head (ANFH). These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical phenotype of LCPD, but do not occur in ANFH. Lack of synthesis of type II collagen and structural defects are responsible for the major clinical outcomes, because collagen is the essential matrix protein of all connective tissues. Type II collagen, encoded by the COL2A1 gene, contains N- and C- terminal regions that are cleaved after secretion into the extracellular matrix, and the core area is composed of a triple helical (Gly-X-Y) domain. If the Gly in this specific region is replaced by other amino acids, the structure of type II collagen will be destroyed.
methodForty-five members of a four-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. A mutation of the COL2A1 gene was detected.
resultIn our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser) in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. Our findings provide significant clues to the phenotype-genotype relationships in these syndromes and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases.
conclusionOur data add new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies.
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