Demir Kübra, Güleç Çağrı, Aslanger Ayça, Öztürk Ayşe Pınar, Özsait Selçuk Bilge, Tuna İnce Elif Bahar, Toksoy Güven
Department of Genetics, Institute of Health Sciences, Istanbul University, Istanbul, Turkey.
Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Odontology. 2024 Dec 15. doi: 10.1007/s10266-024-01036-7.
Osteogenesis imperfecta, a common genetic connective tissue disorder affecting bone with multisystemic implications, is caused by genomic alterations at various levels that disrupt the biosynthesis stages of collagen Type I. This study evaluated the intraoral and clinical findings of 43 OI cases in relation to genetic variants, aiming to contribute new insights into the roles of collagen and non-collagen genes in the oral-dental pathology of OI. Significant associations were found between OI variants and dental anomalies such as dentinogenesis imperfecta, enamel hypoplasia, taurodontism, and hypodontia. COL1A1/2-truncated variants were linked to atypical intercanine width, and midface hypoplasia correlated with reduced overjet and overbite. Bisphosphonate treatment, especially when initiated before age two, was associated with enamel hypoplasia. Oral hygiene habits, including brushing frequency and use of additional products, were linked to lower DMFT. In the OI group, significant associations were noted between Angle Class III malocclusion and reduced brushing frequency, as well as between deep palatal vault and increased DMFT. A correlation was also observed between maximum mouth opening and joint hypermobility. These findings, along with new dental observations related to non-collagen variants, shed light on the oral health challenges in OI patients. Our study underscores the importance of multidisciplinary collaboration between dentistry and medical genetics in understanding complex conditions like OI. The comprehensive analysis of oral and dental findings in OI cases is expected to inform future research and enhance clinical approaches to managing the dental challenges associated with this disorder.
成骨不全症是一种常见的遗传性结缔组织疾病，会影响骨骼并具有多系统影响，它由不同水平的基因组改变引起，这些改变会破坏I型胶原蛋白的生物合成阶段。本研究评估了43例成骨不全症患者的口腔内和临床发现与基因变异的关系，旨在为胶原蛋白和非胶原蛋白基因在成骨不全症口腔牙病学中的作用提供新的见解。研究发现成骨不全症变异与牙本质发育不全、釉质发育不全、牛牙症和牙缺失等牙齿异常之间存在显著关联。COL1A1/2截短变异与非典型尖牙间宽度有关，面中部发育不全与覆盖和覆牙合减小相关。双膦酸盐治疗，尤其是在两岁前开始治疗，与釉质发育不全有关。口腔卫生习惯，包括刷牙频率和使用其他产品，与较低的龋失补牙面数（DMFT）有关。在成骨不全症组中，III类错牙合与刷牙频率降低之间以及腭穹隆加深与DMFT增加之间存在显著关联。还观察到最大开口度与关节活动过度之间存在相关性。这些发现，连同与非胶原蛋白变异相关的新的牙齿观察结果，揭示了成骨不全症患者的口腔健康挑战。我们的研究强调了牙科与医学遗传学之间多学科合作在理解成骨不全症等复杂病症中的重要性。对成骨不全症病例口腔和牙齿发现的综合分析有望为未来的研究提供信息，并加强应对与该疾病相关的牙齿挑战的临床方法。
