20.500.12556/DiRROS-28938 Integrating imaging and genomics in amelogenesis imperfecta a novel diagnostic approach Background/Objectives: Amelogenesis imperfecta (AI) represents a heterogeneous group of inherited disorders affecting the quality and quantity of dental enamel, making clinical diagnosis challenging. This study aimed to identify genetic variants in Slovenian patients with non-syndromic AI and to evaluate enamel morphology using radiographic parameters. Methods: Whole exome sequencing (WES) was performed on 24 AI patients and their families. Panoramic radiographs (OPTs) were analyzed using Fiji ImageJ to assess crown dimensions, enamel angle (EA), dentine angle (DA), and enamel-dentine mineralization ratio (EDMR) in lower second molar buds, compared to matched controls (n = 24). Two observers independently assessed measurements, and non-parametric tests compared EA, DA, and EDMR in patients with and without disease-causing variants (DCVs). Statistical models, including bootstrap-validated random forest and logistic regression, assessed variable influences. Results: DCVs were identified in ENAM (40% of families), AMELX (15%), and MMP20 (10%), including four novel variants. AI patients showed significant enamel deviations with high reproducibility, particularly in hypomineralized and hypoplastic regions. DA and EDMR showed significant correlations with DCVs (p < 0.01). A bootstrap-validated random forest model yielded a 90% (84.0-98.0%) AUC-estimated predictive power. Conclusions: These findings highlight a novel and reproducible radiographic approach for detecting developmental enamel defects in AI and support its diagnostic potential. amelogenesis imperfecta disease-causing variants imaging genomics molecular genetics panoramic radiography amelogenesis imperfecta (AI) različice ki povzročajo bolezni slikovna genomika molekularna genetika panoramsko radiografija true false true Angleški jezik Slovenski jezik Neznano 2026-04-14 12:06:15 2026-04-14 12:06:15 2026-04-15 03:57:38 0000-00-00 00:00:00 2025 0 0 Nasl. z nasl. zaslona; Opis vira z dne 13. 9. 2025; str. 1-19 iss. 7, [article no.] 822 Vol. 16 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 577.2:616.31 2073-4425 10.3390/genes16070822 248843779 RAZ_Leban_Tina_2025.pdf RAZ_Leban_Tina_2025.pdf 1 C197B75BA8344E4E25C4228D4B29FD6E 4b4b3fa726693ce5fcf91a0cefe90f2af65b6894b302c16490673d872a11c01e aef4e748-37e9-11f1-9cc3-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43161 https://www.mdpi.com/2073-4425/16/7/822 1 94c87860-37e9-11f1-9cc3-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=43160 Univerzitetni klinični center Ljubljana 0 0 0