ArticleAmerican journal of medical genetics. Part A2022
Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.
Article in American journal of medical genetics. Part A, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 20 citations in OpenAlex.
- Favorable aortic remodeling following type B aortic dissection in a patient with osteogenesis imperfecta.Journal of vascular surgery cases and innovative techniques · 2026Article
- Rare type I collagen variants in early-onset bicuspid aortic valve disease: Overlap with Ehlers-Danlos syndrome and osteogenesis imperfecta.HGG advances · 2026Article
- Association between ocular manifestations and incident cardiovascular comorbidities in Ehlers Danlos Syndrome.Eye (London, England) · 2026Article
- Pulsatile flow dynamics maintain pulmonary artery architecture.JCI insight · 2026Article
- Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos Syndrome.Molecular syndromology · 2026Article
- Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant.BMC medical genomics · 2025Article
- Intersecting Pathologies:Diagnostics (Basel, Switzerland) · 2025Article
- Bioinformatics analysis reveals major hub genes involved with extracellular matrix and inflammatory and endocrine pathways associated with intracranial aneurysm tissue.Interventional neuroradiology : journal of peritherapeutic neuroradiology, surgical procedures and related neurosciences · 2025Article
- The Impact of SelectedInternational journal of molecular sciences · 2025Article
- Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.Genes · 2025Article
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta.Orphanet journal of rare diseases · 2024Article
- Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.medRxiv : the preprint server for health sciences · 2024Article
- Clinical and molecular features of patients with COL1-related disorders: Implications for the wider spectrum and the risk of vascular complications.American journal of medical genetics. Part A · 2022Article
Corrections and comments
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Authors and funding
10 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abnormalities in type I procollagen genes (COL1A1 and COL1A2) are responsible for hereditary connective tissue disorders including osteogenesis imperfecta (OI), specific types of Ehlers-Danlos syndrome (EDS), and COL1-related overlapping disorder (C1ROD). C1ROD is a recently proposed disorder characterized by predominant EDS symptoms of joint and skin laxity and mild OI symptoms of bone fragility and blue sclera. Patients with C1ROD do not carry specific variants for COL1-related EDS, including classical, vascular, cardiac-valvular, and arthrochalasia types. We describe clinical and molecular findings of 23 Japanese patients with pathogenic or likely pathogenic variants of COL1A1 or COL1A2, who had either OI-like or EDS-like phenotypes. The final diagnoses were OI in 17 patients, classical EDS in one, and C1ROD in five. The OI group predominantly experienced recurrent bone fractures, and the EDS group primarily showed joint hypermobility and skin hyperextensibility, though various clinical and molecular overlaps between OI, COL1-related EDS, and C1ROD as well as intrafamilial phenotypic variabilities were present. Notably, life-threatening vascular complications (vascular dissections, arterial aneurysms, subarachnoidal hemorrhages) occurred in seven patients (41% of those aged >20 years) with OI or C1ROD. Careful lifelong surveillance and intervention regarding bone and vascular fragility could be required.
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