Amelogenesis imperfecta (AI) is a heterogeneous group of genetic disorders of dental enamel. X-linked AI results from disease-causing variants in the AMELX gene. In this paper, we characterise the genetic aetiology and enamel histology of female AI patients from two unrelated families with similar clinical and radiographic findings. All three probands were carefully selected from 40 patients with AI. In probands from both families, scanning electron microscopy confirmed hypoplastic and hypomineralised enamel. A neonatal line separated prenatally and postnatally formed enamel of distinctly different mineralisation qualities. In both families, whole exome analysis revealed the intron variant NM_182680.1: c.103-3T>C, located three nucleotides before exon 4 of the AMELX gene. In family I, an additional variant, c.2363G>A, was found in exon 5 of the FAM83H gene. This report illustrates a variant in the AMELX gene that was not previously reported to be causative for AI as well as an additional variant in the FAM83H gene with probably limited clinical significance.

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.

FAM83H is a critical gene implicated in amelogenesis imperfecta type IIIA (AI type IIIA), but its precise role in enamel formation remains poorly understood. Fragmented datasets, inconsistent terminology, and limited integrative analyses hinder functional interpretation. This study presents a comprehensive multi-omics analysis of FAM83H-associated AI type IIIA. A systematic literature search (February 2008-June 2025) was conducted in PubMed and Web of Science using targeted keywords spanning genomics, transcriptomics, epigenomics, miRNomics, proteomics, interactomics, epiproteomics, metabolomics, glycomics, lipidomics, intracellular localization, phenomics, pharmacogenomics, and environmental omics. Data were extracted using 13 bioinformatic tools and databases including Ensembl, ENCODE, OMIM, HGNC, HGMD, dbSNP, gnomAD, miRBase, TargetScanHuman, MethPrimer, dbPTM, STRING, and MalaCards. Of 150 screened publications, 62 met the inclusion criteria and were categorized across 12 omics layers. Key findings, derived from both published studies and bioinformatic databases/tools, include 38 single nucleotide polymorphisms (SNPs), two CpG islands, 932 predicted micro RNA (miRNA) binding sites, and multiple post-translational modifications. A protein-protein interaction network constructed from 18 AI-associated proteins, including FAM83H, revealed significant connectivity among enamel matrix-related proteins and provided a framework for exploring potential functional associations. This study presents a multi-omics regulatory atlas of FAM83H, encompassing genetic variants, epigenetic changes, and post-translational modifications that are predicted to influence its biological function and role in disease. The integrative methodology supports FAM83H as a model gene for elucidating the molecular mechanisms of amelogenesis imperfecta and may facilitate improved diagnosis and targeted therapeutic strategies for AI type IIIA.

Introduction. In children and growing adolescents, ankylotic resorption (i.e., progressive replacement resorption) of a permanent tooth is a serious complication. An ankylosed tooth root is continuously resorbed and replaced with bone; normal growth of alveolar bone is disturbed and infraposition of the dental crown progresses. This article aims to present decoronation as a very good treatment option for permanent incisors diagnosed with progressive replacement resorption in children and adolescents. Case outline. A 9.5-year-old boy was referred with non-vital both upper central permanent incisors due to dental trauma. In the left one, which had been re-implanted 90 minutes after avulsion, progression of clinical and radiographic pathological signs of ankylotic resorption was observed over the months. To prevent the local arrest of alveolar ridge growth and tilting of adjacent teeth, we decoronated the ankylosed tooth. For aesthetic and functional rehabilitation adhesive bonding of his dental crown was performed. Conclusion. In growing individuals with progressive replacement resorption, a dentist should be aware of decoronation as an effective treatment option with a predictable outcome.