Costache Andrei, Riza Anca-Lelia, Popescu Mihaela, Șerban Rebecca-Cristiana, Mituț-Velișcu Andreea-Mădălina, Streață Ioana
Department of Biophysics, University of Medicine and Pharmacy of Craiova, 200349 Craiova, Romania.
Laboratory of Human Genomics, University of Medicine and Pharmacy of Craiova, 200638 Craiova, Romania.
Biomedicines. 2025 Apr 3;13(4):865. doi: 10.3390/biomedicines13040865.
Osteogenesis imperfecta (OI) is a rare hereditary connective tissue disorder. Diagnosis is typically clinical; genetic testing can contribute. : We are presenting a case series of type I OI in Romanian patients, showcasing the difficulties in diagnostic and case management in pediatric and adult cases. : Nine patients were referred to the Regional Centre for Medical Genetics (CRGM), Dolj, Craiova, between 2021 and 2024. Genetic testing was conducted using the commercially available kit Illumina TruSight™ One. : Most of the patients showed blue sclerae, significant fracture history, and reduced stature. In our case series, the genetic variants for seven of the cases identified are primarily in the and genes. Our study reveals significant clinical variability among patients, even among those with identical genetic variants. This emphasizes the importance of tailored surgical and rehabilitation programs to improve the quality of life for these patients. : Our study contributes to the genetic landscape of OI. Future research should aim to include larger, more diverse cohorts and incorporate advanced genetic analysis techniques to identify additional genetic variants and mechanisms involved in OI.
成骨不全症（OI）是一种罕见的遗传性结缔组织疾病。诊断通常基于临床；基因检测也能提供帮助。我们展示了一组罗马尼亚成骨不全症I型患者的病例系列，突显了儿科和成人病例在诊断及病例管理方面的困难。2021年至2024年期间，9名患者被转诊至克拉约瓦多尔日的地区医学遗传学中心（CRGM）。使用市售的Illumina TruSight™ One试剂盒进行基因检测。大多数患者表现出蓝色巩膜、显著的骨折史和身材矮小。在我们的病例系列中，所鉴定的7例病例的基因变异主要存在于 和 基因中。我们的研究揭示了患者之间存在显著的临床变异性，即使是那些具有相同基因变异的患者。这强调了制定个性化手术和康复计划以改善这些患者生活质量的重要性。我们的研究为成骨不全症的基因图谱做出了贡献。未来的研究应旨在纳入更大、更多样化的队列，并采用先进的基因分析技术来识别成骨不全症中涉及的其他基因变异和机制。
