ArticleHuman genomics2017
Mutational analysis of COL1A1 and COL1A2 genes among Estonian osteogenesis imperfecta patients.
Article in Human genomics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 58 citations in OpenAlex.
- Exome sequencing and prenatal skeletal abnormalities: comprehensive review and meta-analysis and way forward.Frontiers in genetics · 2025Pooled it
- Phenotypic Variability and Diagnostic Characteristics of Pediatric Osteogenesis Imperfecta: A 10-Year Multicenter Cohort Study from Three Tertiary Pediatric Hospitals in Bucharest, Romania.Diagnostics (Basel, Switzerland) · 2026Article
- New lens on congenital mild bone fragility: a novel Col1a1 knockout mouse model for osteogenesis imperfecta type 1.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026Article
- Article
- Metabolic-associated steatotic liver disease in children and adolescents: a scoping review and narrative synthesis of epidemiology, risk factors, and screening approaches with emerging implications for sub-Saharan Africa.Frontiers in endocrinology · 2026Article
- Sex, BMI, skeletal maturation, and height among children and adolescents in high-altitude Xizang: a cross-sectional study.Frontiers in endocrinology · 2026Article
- Identification and functional characterization of a novel pathogenicFrontiers in genetics · 2026Article
- Review
- Extendable intramedullary nailing in a child with osteogenesis imperfecta of bilateral femoral fractures: a case report.Frontiers in surgery · 2025Article
- The Role of Mitochondrial Homeostasis in Mesenchymal Stem Cell Therapy-Potential Implications in the Treatment of Osteogenesis Imperfecta.Pharmaceuticals (Basel, Switzerland) · 2024Review
- Osteogenesis Imperfecta: A study of the patient journey in 13 European countries.Orphanet journal of rare diseases · 2024Article
- Cardiac PDGFRαFASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2023Article
- NGS analysis of collagen type I genes in Polish patients with Osteogenesis imperfecta: a nationwide multicenter study.Frontiers in endocrinology · 2023Article
- Expanding the genetic and clinical spectrum of osteogenesis imperfecta: identification of novel rare pathogenic variants in type I collagen-encoding genes.Frontiers in endocrinology · 2023Article
- Potential biomarkers and immune characteristics of small bowel adenocarcinoma.Scientific reports · 2022Article
- Article
- Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations.Orphanet journal of rare diseases · 2022Article
- Review
- Over-Representation of Recessive Osteogenesis Imperfecta in Asian Indian Children.Journal of pediatric genetics · 2022Article
- Utility of next-generation sequencing in genetic testing and counseling of disorders involving the musculoskeletal system-trends observed from a single genetic unit.Journal of orthopaedic surgery and research · 2022Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a rare bone disorder. In 90% of cases, OI is caused by mutations in the COL1A1/2 genes, which code procollagen α1 and α2 chains. The main aim of the current research was to identify the mutational spectrum of COL1A1/2 genes in Estonian patients. The small population size of Estonia provides a unique chance to explore the collagen I mutational profile of 100% of OI families in the country.
methodsWe performed mutational analysis of peripheral blood gDNA of 30 unrelated Estonian OI patients using Sanger sequencing of COL1A1 and COL1A2 genes, including all intron-exon junctions and 5'UTR and 3'UTR regions, to identify causative OI mutations.
resultsWe identified COL1A1/2 mutations in 86.67% of patients (26/30). 76.92% of discovered mutations were located in the COL1A1 (n = 20) and 23.08% in the COL1A2 (n = 6) gene. Half of the COL1A1/2 mutations appeared to be novel. The percentage of quantitative COL1A1/2 mutations was 69.23%. Glycine substitution with serine was the most prevalent among missense mutations. All qualitative mutations were situated in the chain domain of pro-α1/2 chains.
conclusionOur study shows that among the Estonian OI population, the range of collagen I mutations is quite high, which agrees with other described OI cohorts of Northern Europe. The Estonian OI cohort differs due to the high number of quantitative variants and simple missense variants, which are mostly Gly to Ser substitutions and do not extend the chain domain of COL1A1/2 products.
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