Segmental Odontomaxillary Dysplasia:Clinical Features And Molecular Insights

To investigate the clinical features and molecular mechanisms underlying segmental odontomaxillary dysplasia (SOD). A systematic literature review was conducted on SOD cases, sourcing data from PubMed, EMBASE, and other databases. Clinical features were integrated through meta-analysis. Somatic mutations in lesion tissues were identified through whole-exome sequencing of patient samples, comparing them with those in peripheral blood. Validated mutations were further studied in SRRT-knockout periodontal ligament stem cell models to assess their effect on osteogenic differentiation. Additionally, a mouse ectopic ossification model was employed for further validation. A total of 45 articles (81 cases) were included in the analysis. The lesions were predominantly localized to the maxilla (93%), with associated findings of ipsilateral tooth agenesis (55%) and non-inflammatory gingival hyperplasia (47%). Genetic analysis revealed SRRT gene mutations in lesion tissues. Functional studies using cellular and mouse models demonstrated that SRRT mutations are associated with bone structural abnormalities in SOD. SOD is characterized by unilateral maxillary and soft tissue hyperplasia, along with dental anomalies. Loss-of-function mutations in SRRT are identified as potential molecular causes of SOD.