10. Association between malocclusion and genetic mutations in patients with osteogenesis imperfecta
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Abstract
This study aimed to determine the association between malocclusion and genetic variants in patients with osteogenesis imperfecta (OI). A cross-sectional descriptive study was conducted on 31 OI patients aged 2 – 19 years old. Clinical examinations and radiographic imaging were performed to assess malocclusion, and whole-genome sequencing was used to identify genetic mutations. Among the study participants, 32 variants in type I collagen genes (COL1A1 and COL1A2) were recorded, with Class III malocclusion observed in 56.25% of cases. Notably, the prevalence was significantly higher in the COL1A2 group (77.8%) compared to the COL1A1 group (47.8%). Class III malocclusion was also significantly more frequent in patients with qualitative variants (75%) than patients with quantitative variants (37.5%) (p = 0.033). These findings suggest that gene mutation type influences the manifestation of malocclusion in OI patients. Identifying the mutation type may assist in early prognosis and development of personalized dental treatment.
Article Details
Keywords
Osteogenesis imperfecta, COL1A1, COL1A2, malocclusion
References
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