ArticleActa paediatrica (Oslo, Norway : 1992)2025
Clinical Features of Seven COL2A1 Variations in Chinese Children With Type II Collagen Disorders.
Article in Acta paediatrica (Oslo, Norway : 1992), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
6 citing papers in PubMed.
- Prenatal Spectrum of COL2A1-Related Spondyloepiphyseal Dysplasia Congenita: A Review and Two Case Reports.Prenatal diagnosis · 2026Review
- Diagnosis of hypochondroplasia: international Delphi consensus recommendations.Nature reviews. Endocrinology · 2026Review
- miR-145-5p combined with miR-140-5p regulates the differentiation of bone marrow mesenchymal stem cells into nucleus pulposus cells and its mechanism in the treatment of intervertebral disc degeneration.Journal of orthopaedic surgery and research · 2026Article
- Internal diseases and molecular mechanisms causing slipped capital femoral epiphysis in children.World journal of orthopedics · 2025Review
- Integrative multi-omics and causal inference reveal periodontal ligament cell-macrophage crosstalk under orthodontic force.Progress in orthodontics · 2025Article
- Optimising diagnosis in children with short stature: an integrated clinical and NGS approach.Endocrine connections · 2025Article
Corrections and comments
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Authors and funding
9 authors.
Funding
Abstract
aimType II collagen, encoded by the collagen type II alpha 1 (COL2A1) gene, is crucial for the structure of cartilage. This study aims to improve our understanding of Spondyloepiphyseal Dysplasia Congenita (SEDC) caused by mutations in COL2A1. We also aim to evaluate the safety and efficacy of growth hormone (GH) therapy in two SEDC patients.
methodsWe performed genetic analyses of seven paediatric patients from unrelated Chinese families. Two patients received GH therapy, and their growth trajectories were monitored over 3.5 and 3 years.
resultsGenetic screening identified six missense mutations (Gly1110Ser, Gly1107Glu, Gly873Arg, Gly456Ala, Gly1062Ser and Gly1182Arg) and one intron variant in COL2A1. All patients (five girls and two boys, ranging from 2 years and 7 months to 12 years) were diagnosed with SEDC, exhibiting disproportionate short stature and skeletal abnormalities. GH therapy resulted in height increases of 0.76 and 0.27 standard deviation scores over 3.5 and 3 years, respectively, with no significant side effects.
conclusionThis study expands the mutation spectrum of COL2A1 and supports the efficacy and safety of GH therapy in SEDC patients, highlighting the need for multi-center studies to further investigate GH's therapeutic potential.
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