ArticleNorthern clinics of Istanbul2026
Molecular and clinical findings in Osteogenesis Imperfecta: A cohort study from a single tertiary center.
Article in Northern clinics of Istanbul, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveOsteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal fragility disorder. Although COL1A1/COL1A2 variants account for most cases, non-COL1A genes and overlapping monogenic bone fragility conditions complicate diagnosis and genotype-phenotype interpretation in routine practice. We aimed to describe the clinical spectrum and molecular findings of patients evaluated for suspected or confirmed OI at a tertiary referral center, and to assess phenotype patterns across genotype-informed groups.
methodsWe conducted a single-center retrospective cohort study at Ankara City Hospital. Pediatric and adult patients evaluated for suspected/confirmed OI were included. Clinical, radiologic, and treatment data were extracted from medical records. All patients underwent targeted next-generation sequencing panel testing, and variants were interpreted according to ACMG criteria. Findings were summarized descriptively and analyzed across COL1A1/COL1A2, non-COL1A OI-associated genes, and non-OI bone-related genes.
resultsForty-two individuals were included (age range at genetic evaluation: 0.1-47 years). The most common referral indication was recurrent long-bone fractures (81.0%), while 31.0% presented with or additional vertebral compression fractures and/or osteoporosis. Variants in OI-associated genes were identified in 30/42 patients (71.4%); 23/42 (54.7%) had molecularly confirmatory pathogenic/likely pathogenic variants in established OI-associated genes. Among genetically confirmed OI cases, 17/23 (73.9%) involved COL1A1/COL1A2. In the non-COL1A subgroup, biallelic pathogenic/likely pathogenic variants were found in CRTAP, P3H1, and FKBP10 (n=5), and one patient had a heterozygous WNT1 variant. Seven patients (16.7%) had negative panel results. At last follow-up, 83.3% were independently ambulatory.
conclusionIn this tertiary-center cohort, integrating phenotype with molecular testing improved diagnostic stratification in suspected OI and highlighted the predominance of COL1A-related disease. However, the continued clinical relevance of VUS and panel-negative results underscores the need for broader second-tier genetic testing and periodic reanalysis in cases where clinical suspicion persists.
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