ArticleMolecular genetics & genomic medicine2021
Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed.
- 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
- Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.Northern clinics of Istanbul · 2026Article
- Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.Human mutation · 2026Article
- Molecular drivers of osteogenesis imperfecta: a cellular and extracellular collagen disease.Clinical science (London, England : 1979) · 2025Review
- Review
- Intramedullary telescopic nailing method applied in cases with osteogenesis imperfecta and our results.BMC musculoskeletal disorders · 2025Article
- Osteogenesis imperfecta: pathogenesis, classification, and treatment.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2025Review
- Genotype-phenotype correlations in 294 pediatric patients with osteogenesis imperfecta.JBMR plus · 2024Article
- Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients.Current issues in molecular biology · 2024Article
- Trabecular bone scores in children with osteogenesis imperfecta respond differently to bisphosphonate treatment depending on disease severity.Frontiers in pediatrics · 2024Article
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen.Frontiers in genetics · 2022Article
- Comparing Clinical and Genetic Characteristics ofFrontiers in endocrinology · 2022Article
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6 authors.
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Abstract
backgroundOsteogenesis imperfecta (OI) is a rare connective-tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2 variants in 22 Japanese families with OI through denaturing high-performance liquid chromatography screening, but our detection rate was low (41%).
methodsTo expand the genotype-phenotype correlations, we performed a genetic analysis of COL1A1/2 and IFITM5 in 96 non-consanguineous Japanese OI probands by Sanger sequencing.
resultsOf these individuals, 54, 41, and 1 had type 1 (mild), type 2-4 (moderate-to-severe), and type 5 phenotypes, respectively. In the mild group, COL1A1 nonsense and splice-site variants were prevalent (n = 30 and 20, respectively), but there were also COL1A1 and COL1A2 triple-helical glycine substitutions (n = 2 and 1, respectively). In the moderate-to-severe group, although COL1A1 and COL1A2 glycine substitutions were common (n = 14 and 18, respectively), other variants were also detected. The single case of type 5 had the characteristic c.-14C>T variant in IFITM5.
conclusionThese results increase our previous detection rate for COL1A1/2 variants to 99% and provide insight into the genotype-phenotype correlations in OI.
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