Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders affecting dental enamel. In this research, we analysed the exomes of 24 Slovenian children with non-syndromic forms of AI to identify the genetic etiology in AI-related genes. Additionally, using the Fiji ImageJ programme, we analysed the panoramic radiographs (OPTs) of children with AI and those in a control group. We determined three radiographic parameters: enamel angle (EA), dentin angle (DA), and enamel/dentin mineralisation ratio (EDMR), to quantitatively evaluate changes in the enamel of second lower permanent molar buds. In 13 families we identified pathological variants in three AI-related genes: eight families (61.5%) had variants in the ENAM gene, three families (23.1%) in the AMELX gene, and two families (15.4%) in the MMP20 gene. Among these, five variants were novel. Based on the results the control group, we independently calculated the cut-off values for EA, DA, and EDMR. Hypomineralization and hypoplastic regions were observed, indicating significant deviations in enamel quantity and quality with high reproducibility. The correlation of all three parameters, as well as individually for DA and EDMR, was statistically significant based on the identified pathological variants. Assessing the influence of all three parameters on the presence of pathological variants in three AI-related genes yielded a 90% (84.0 – 98.0%) AUC-estimated predictive power using the random forest model. This research highlights the potential of a novel interpretive tool in diagnosing developmental enamel defects, offering insights into the genetic basis and radiographic features of AI.
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