Search Results (97)

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. Full article

ABCC6, a key regulator in ectopic calcification, plays a crucial role in mineralization through the modulation of extracellular purinergic pathways and production of inorganic pyrophosphate (PPi), which inhibits calcification. Inherited deficiencies in ABCC6 lead to pseudoxanthoma elasticum (PXE) and related conditions, characterized by calcification in various tissues, particularly affecting the skin, eyes, and cardiovascular system. Although PXE does not directly impact the nervous system, secondary neurological issues arise from cerebrovascular complications, increasing the risk of strokes linked to arterial blockages resembling atherosclerosis. This review investigates the connection between ABCC6 mutations and cerebral small vessel disease (SVD), expanding the understanding of PXE and related phenotypes. Mutations in ABCC6, identified as causing PXE, contribute to systemic metabolic dysfunction, with significant implications for cerebrovascular health. An association between ABCC6 mutations and cerebral SVD has been suggested in various studies, particularly in populations with distinct genetic backgrounds. Emerging evidence indicates that pathogenic mutations increase the risk of ischemic strokes, with both homozygous and heterozygous carriers showing susceptibility. Mechanistically, ABCC6 deficiency is implicated in dyslipidemia and atherosclerosis, further exacerbating cerebrovascular risks. Increased arterial pulsatility, linked to carotid siphon calcification, may also contribute to microvascular damage and subsequent brain injury. Understanding these mechanisms is vital for developing targeted diagnostic and therapeutic strategies for managing cerebrovascular risks in PXE patients. This review emphasizes the need for comprehensive genetic screening and the consideration of traditional vascular risk factors in patient management, highlighting the complex interplay between genetic mutations and environmental influences affecting cerebrovascular health. Future research should focus on longitudinal studies to elucidate the causal pathways linking arterial calcification, pulsatility, and brain damage in PXE. Full article

Rare earth elements (REEs) are critical mineral resources that play a pivotal role in modern technology and industry. Currently, the global supply of light rare earth elements (LREEs) remains adequate. However, the supply of heavy rare earth elements (HREEs) is associated with substantial risks due to their limited availability. Ion-adsorption type rare earth deposits (IAREDs), which represent the predominant source of HREEs, have become a focal point for exploration activities, with a notable increase in global interest in recent years. This study systematically collected stream sediments and stream water samples from the Jiaping IARED in Guangxi, as well as from adjacent granitic and carbonate background areas, to investigate the exploration significance of geochemical surveys for IAREDs. Additionally, mineralized soil layers, non-mineralized soil layers, and bedrock samples from the weathering crust of the Jiaping deposit were analyzed. The results indicate that stream sediments originating from the Jiaping IARED and granite-hosted background regions display substantially elevated REE concentrations relative to those from carbonate-hosted background areas. Moreover, δEu values in stream sediments can serve as an effective indicator for differentiating weathering products derived from granitic and carbonate lithologies. Within the mining area, three coarse-grained fractions of stream sediments (i.e., +20 mesh, 20–60 mesh, and 60–150 mesh) exhibit REE concentrations comparable to those observed in both granite-hosted and carbonate-hosted background regions. However, the HREEs content in the finer -150-mesh stream sediments from Jiaping IARED is markedly higher than that in the two background regions. The (La/Sm)_N versus (La/Yb)_N ratios of -150-mesh stream sediments in the Jiaping IARED may reflect the mixing processes involving HREE-enriched ore layer, non-mineralized layer, and LREE-enriched ore layer. This observation implies that fine-grained (-150-mesh) stream sediments can partially inherit the REE characteristics of mineralized layers within IAREDs. Scanning electron microscopy (SEM) observations indicate that the enrichment of REEs in fine-grained stream sediments primarily originates from REE-rich accessory minerals derived from parent rocks and mineralized weathering crusts. A comparative analysis reveals that the concentrations of REEs in stream water collected during the rainy season are significantly higher than those collected during the dry season. Moreover, the levels of REEs, especially HREE, in stream water from the Jiaping IARED substantially exceed those in background areas. Collectively, these findings suggest that the geochemical signatures of REEs in rainy season stream water possess diagnostic potential for identifying IAREDs. In conclusion, the integrated application of geochemical surveys of stream water and -150-mesh stream sediments can effectively delineate exploration targets for IAREDs. Full article

Seed quality traits, such as seed size, oil and protein content, mineral accumulation, and morphological characteristics, are crucial for enhancing crop productivity, nutritional value, and marketability. Traditional quantitative trait loci (QTL) mapping methods, such as linkage analysis and genome-wide association studies (GWAS), have played fundamental role in identifying loci associated with these complex traits. However, these approaches often struggle with high-dimensional genomic data, polygenic inheritance, and genotype-by-environment (GXE) interactions. Recent advances in artificial intelligence (AI) and machine learning (ML) provide powerful alternatives that enable more accurate trait prediction, robust marker-trait associations, and efficient feature selection. This review presents an integrated overview of AI/ML applications in QTL mapping and seed trait prediction, highlighting key methodologies such as LASSO regression, Random Forest, Gradient Boosting, ElasticNet, and deep learning techniques including convolutional neural networks (CNNs) and graph neural networks (GNNs). A case study on soybean seed mineral nutrients accumulation illustrates the effectiveness of ML models in identifying significant SNPs on chromosomes 8, 9, and 14. LASSO and ElasticNet consistently achieved superior predictive accuracy compared to tree-based models. Beyond soybean, AI/ML methods have enhanced QTL detection in wheat, lettuce, rice, and cotton, supporting trait dissection across diverse crop species. I also explored AI-driven integration of multi-omics data—genomics, transcriptomics, metabolomics, and phenomics—to improve resolution in QTL mapping. While challenges remain in terms of model interpretability, biological validation, and computational scalability, ongoing developments in explainable AI, multi-view learning, and high-throughput phenotyping offer promising avenues. This review underscores the transformative potential of AI in accelerating genomic-assisted breeding and developing high-quality, climate-resilient crop varieties. Full article

We studied the chemical composition and morphostructural features of micron and submicron-sized particles of native gold in apocarbonate tremolite–diopside skarns of the Ryabinovoye deposit located on the southeastern margin of the Aldan Shield (Far East, Russia). Polished sections of lump ore samples containing native gold were analyzed by scanning electron microscopy in combination with X-ray microanalysis using different modes of visualization and X-ray diffraction methods. Gold particles, clearly visible after etching the surface of some polished sections with acids and partial or complete dissolution of some host minerals, were also examined. Native gold from the studied deposit is of high fineness (above 970‰) and contains (in wt.%) <1.59 Ag and less commonly <0.37 Cu and <0.15 Zn. Native gold is found intergrown with tremolite, diopside, and other magnesian silicates, as well as calcite, fluorite, magnetite, and sphalerite. Rare microinclusions of pyrrhotite, galena, and clinohumite are present in gold grains. It was found that native gold inherits the morphology of tremolite crystals and aggregates, which is determined by the size and shape of the voids bounded by its crystals. Gold localized in the intercrystalline spaces and in the zones of conjugation with remobilized calcite has irregular, lumpy shapes and partially or completely faceted grains with a dense structure. The nature of the localization and distribution of native gold in ores is due to the crystallization of the tremolite component of skarns. Apparently, the processes of gold accumulation are caused by the thermal activation of solid-phase differentiation of the substance of carbonate rocks, in which the processes of destruction of the original minerals and collective recrystallization play a significant role. It is likely that at some gold skarn deposits, carbonate rocks could be the source of gold. Data on the morphology and sizes of native gold segregations, as well as on the intergrown minerals, can be used to improve gold extraction technologies. A specific group of minerals intergrown with native gold in gold skarn deposits can be used as a diagnostic feature in the primary search for placer gold. The obtained results will help to better understand the formation of native gold in apocarbonate tremolite–diopside skarns. Full article

In this article, we consider the roles of transcrustal magma- and fluid-conducting faults (TCMFCFs) in the formation of mineral deposits, showing the importance of deep sources of heat and hydrothermal solutions in the genesis and history of deposit formation. As a result of the impact on the lithosphere of mantle plumes rising along TCMFCFs, intense block deformations and tectonic movements are generated; rift systems, and volcanic–plutonic belts spatially combined with them, are formed; and intrusive bodies are introduced. These processes cause epithermal ore formation as a consequence of the impact of mantle plumes rising along TCMFCF to the lithosphere. At hydrocarbon fields, they play extremely important roles in conductive and convective heat, as well as in mass transfer to the area of hydrocarbon generation, determining the relationship between the processes of lithogenesis and tectogenesis, and activating the generation of hydrocarbons from oil and gas source rock. Detection of TCMFCFs was carried out using MMSS (the method of microseismic sounding) and MTSM (the magnetotelluric sounding method), in combination with other geological and geophysical data. Practical examples are provided for mineral deposits where subvertical transcrustal columns of increased permeability, traced to considerable depths, have been found; the nature of these unique structures is related to faults of pre-Paleozoic emplacement, which determined the fragmentation of the sub-crystalline structure of the Earth and later, while developing, inherited the conditions of volumetric fluid dynamics, where the residual forms of functioning of fluid-conducting thermohydrocolumns are granitoid batholiths and other magmatic bodies. Experimental modeling of deep processes allowed us to identify the quantum character of crystal structure interactions of minerals with “inert” gases under elevated thermobaric conditions. The roles of helium, nitrogen, and hydrogen in changing the physical properties of rocks, in accordance with their intrastructural diffusion, has been clarified; as a result of low-energy impact, stress fields are formed in the solid rock skeleton, the structures and textures of rocks are rearranged, and general porosity develops. As the pressure increases, energetic interactions intensify, leading to deformations, phase transitions, and the formation of chemical bonds under the conditions of an unstable geological environment, instability which grows with increasing gas saturation, pressure, and temperature. The processes of heat and mass transfer through TCMFCFs to the Earth’s surface occur in stages, accompanied by a release of energy that can manifest as explosions on the surface, in coal and ore mines, and during earthquakes and volcanic eruptions. Full article

The Bijigou layered intrusion is located in the northern margin of the Yangtze block. Based on cumulus mineral assemblages, the intrusion is divided into three major units from the base upwards: the lower zone (LZ), dominated by olivine gabbro; the middle zone (MZ), composed of gabbro and Fe-Ti oxide ore layers; and the upper zone (UZ), characterized by (quartz) diorite. Previous studies reported various vermicular symplectite textures in layered intrusions, which are thought to be related to the magmatic evolution of the layered intrusions and the mineralization of vanadium–titanium magnetite. However, detailed studies on the specific reaction mechanism of those symplectites are lacking. In this study, the characteristics, mineral compositions, and crystal orientation relationships of minerals in symplectites from Fe-Ti oxide Fe-Ti oxide-rich gabbro are in the Bijigou layered intrusion investigated by an Electron Probe Microanalyzer (EPMA) and Electron Backscattered Diffraction (EBSD) to reveal the formation process of symplectites in gabbros. In the Fe-Ti oxide-rich gabbro, abundant amphibole + spinel (Amp₁ + Spl) symplectite and amphibole + plagioclase (Pl₂ + Amp₂) symplectite are developed between the primocryst plagioclase (Pl₁) and Fe-Ti oxide; Pl₂ had significantly higher An contents (An_92–97) relative to Pl₁. The Mg # for Amp₁ and Amp₂ was 0.78–1 and 0.6–0.84, respectively. Amphibole geothermometer calculations show Amp₁ and Amp₂ at 934–953 °C and 834–914 °C, suggesting that these symplectites crystallized at a late stage of magmatic evolution. The crystallographic orientation relationship between Amp₁ and Spl varies in different areas, and Spl has a particular orientation relationship with the external Ilm. Pl₂ and Amp₂ inherit the crystallographic orientation of Amp₁ and Pl₁, respectively. We speculate that in the Bijigou layered intrusions, Amp₁ + Spl and Pl₂ + Amp₂ were formed in two stages: Amp₁ + Spl symplectite due to Ilm epitaxial growth as a result of supersaturation and rapid nucleation; and Pl₂ + Amp₂ symplectite due to dissolution–precipitation. Full article

In the Posušje region of the External Dinarides (Bosnia and Herzegovina), bauxite deposits are hosted along a Late Cretaceous–Paleogene forebulge unconformity that records an extended emersion phase of the Adriatic Carbonate Platform. Historically, open-pit mining has targeted surface and shallow subsurface bauxite bodies, but ongoing exploration must now focus on deeper structurally preserved deposits. To address this challenge, we integrate remote sensing, geological mapping, borehole data, and 3D structural modeling to assess the distribution and structural controls of bauxite deposits. Balanced and restored cross-sections reveal a complex interplay between inverted normal faults, fold structures, and foredeep burial, which collectively influenced bauxite accumulation and preservation. Statistical analyses of deposit size, shape, and orientation indicate that larger bauxite bodies are concentrated in the footwalls of inverted normal faults, where prolonged or repeated exposure enhanced karst development and bauxite accumulation. Additionally, the predominant NW–SE elongation of bauxite bodies suggests that pre-existing structural lineaments played a key role in paleokarst morphology, supporting the influence of syn-depositional extensional faulting on bauxite distribution. These findings demonstrate that bauxite exploration in fold–thrust belts requires an integrated structural approach, where 3D geological modeling can delineate prospective areas prior to costly geophysical surveys and drilling campaigns. Insights from the Posušje region can refine mineral exploration strategies in other orogenic settings, highlighting the importance of structural inheritance in karst bauxite accumulation and preservation. Full article

Clays deposited in marine evaporite sequences are strongly altered, and the most important factor determining their transformation is brine concentration. An X-ray diffraction study of clay minerals associated with the Lower and Middle Miocene evaporite formations of the Ukrainian Carpathian Foredeep indicated that the clay mineral assemblages in the gypsum facies are composed of smectite and illite, and, in some samples, mixed-layer chlorite–smectite and illite–smectite, as well as chlorite. In the halite facies, illite, chlorite, and mixed-layer illite–smectite occur in rock salt of Eggenburgian age (Vorotyshcha Suite); in addition to those minerals, smectite, corrensite, and mixed-layer chlorite–smectite occur in the Badenian rock salt (Tyras Suite); and in the potash facies, illite and chlorite were recorded. Such clay mineral assemblages resulted from the aggradational transformation of unstable and labile minerals and phases (kaolinite, smectite, and mixed-layer phases) that finally pass into illite and chlorite, minerals that are stable in an evaporite environment. In addition to brine concentration control, another important factor in the transformations of clay minerals was the sorption of organic components on the mineral structure, which slows the transformation processes. The assemblage of clay minerals in the weathering zone of the evaporite deposits, besides inherited illite and chlorite, also contains mixed-layer illite–smectite and kaolinite. The appearance of those clay minerals in hypergene deposits is the consequence of two processes: degradational transformation (illite–smectite) and neoformation (kaolinite) in conditions of decreased ionic concentrations during desalination. Full article

Facioscapulohumeral dystrophy (FSHD), the second most common inherited muscular dystrophy in adulthood, is characterized by progressive muscle loss, accompanied by an increase in fat mass. Beyond these alterations in body composition, which contribute to the risk of sarcopenic obesity, FSHD is associated with systemic inflammation and oxidative stress. These interconnected mechanisms may worsen muscle atrophy, leading to a decline in physical efficiency and quality of life. While the therapeutic benefits of physical therapy and exercise have been investigated, the impact of dietary interventions remains underexplored. Given the established role of nutrition in managing various chronic diseases, there is growing interest in understanding how it might influence the clinical management of FSHD. By addressing current gaps in the literature, this review aims to investigate the potential role of dietary patterns and specific nutrients in modulating muscle metabolism within the context of FSHD. Some studies have indicated various compounds (flavonoids, curcumin, L-carnitine, coenzyme Q10, and omega-3), vitamins (C and E), and minerals (zinc and selenium) with antioxidant and anti-inflammatory properties as promising treatment strategies for FSHD. Instead, few data regarding the effects of proteins and creatine supplementation are available. Furthermore, the potential benefits of essentials amino acids, β-hydroxy-β-methylbutyrate, and vitamin D in contrasting muscle atrophy and enhancing muscle function remain unexplored. Despite these preliminary findings, the existing body of evidence is limited. Identifying novel therapeutic strategies to complement existing treatments could provide a more comprehensive management framework, aimed at improving the long-term health outcomes and quality of life of FSHD patients. Full article

Thalassemia, once associated with limited survival, now sees extended life expectancy due to treatment advancements, but new complications such as pseudoxanthoma elasticum (PXE)-like syndrome are emerging. In fact, thalassemia patients develop PXE-like features more frequently than the general population. These features include skin lesions, ocular changes, and vascular issues like arterial calcifications, all linked to oxidative damage from iron overload. PXE-like syndrome in thalassemia mimics inherited PXE but is acquired. The underlying cause is thought to be oxidative stress due to iron overload, which induces free radicals and damages elastic tissues. Unlike inherited PXE, this form does not involve mutations in the ABCC6 gene, suggesting different pathogenic mechanisms, including abnormal fibroblast metabolism and oxidative processes. The vascular calcification seen in this syndrome often follows elastic fiber degeneration, with proteoglycans and glycoproteins acting as nucleation sites for mineralization. The condition can lead to severe cardiovascular and gastrointestinal complications. Studies have shown a significant incidence of PXE-like skin lesions in thalassemia patients, with some dying from cardiovascular complications. Research on ABCC6, a transporter protein involved in ectopic mineralization, has highlighted its role in various conditions, including PXE, beta-thalassemia, and generalized arterial calcification of infancy. ABCC6 mutations or reduced expression led to ectopic mineralization, affecting cardiovascular, ocular, and dermal tissues. The exact molecular mechanisms linking ABCC6 deficiency to ectopic mineralization remain unclear, though it is known to influence calcification-modulating proteins. This review focuses on the role of ABCC6 in the pathogenesis of calcifications, especially intracranial vascular calcifications in PXE and beta-thalassemia. Full article

Siliceous minerals with the property of resistance to diagenetic alteration precipitate during the migration of hydrothermal fluids through strike-slip faults and the interaction of these fluids with host rocks during fault activity. Based on petrological analyses and U-Pb dating of siliceous minerals, the stages of strike-slip faulting of the ultra-deep-burial Ordovician in the Fuman oilfield were subdivided and their evolutionary process was discussed in combination with seismic interpretation. The results reveal the following: (1) the strike-slip faults contain hydrothermal siliceous minerals, including cryptocrystalline silica, crystalline silica, and radial silica. (2) Based on the twelve U-Pb ages of siliceous minerals (ranging from 458 ± 78 Ma to 174 ± 35 Ma) and five U-Pb ages of calcite, the activity of the strike-slip faults was divided into six stages: the Middle Caledonian, Late Caledonian, Early Hercynian, Middle Hercynian, Late Hercynian, and Yanshanian, corresponding to twelve siliceous U-Pb ages ranging from 458 ± 78 Ma to 174 ± 35 Ma, and five calcitic U-Pb ages. The Late Caledonian and Early Hercynian were the main periods of strike-slip fault activity, while the Late Hercynian period marked the final period of the fault system. (3) Later-stage faults inherited and developed from pre-existing faults. Steep linear strike-slip faults formed during the Middle and Late Caledonian movements. During the Late Hercynian and Yanshanian movements, mid-shallow faults, branch faults, and shallow echelon faults developed on the foundation of these linear faults. The methods and results of this study can guide future hydrocarbon exploration in the Fuman oilfield and can be applied to areas with similar tectonic backgrounds. Full article

The Ordovician/Silurian boundary (Wufeng/Longmaxi formations) in the Shizhu region, eastern Sichuan Basin, China hosts organic-rich black shales which are frequently interbedded with bentonite and hydrothermal minerals (e.g., pyrite). This study investigated the mineralogical, total organic carbon (TOC), total sulfur (TS), and major and trace element compositions of organic-rich samples. Non-visible volcanic input is identified to influence organic matter accumulation, as shown by the correlations between TOC and proxies, including Zr and Hf contents and the Cr/Al₂O₃, V/Al₂O₃, Ni/Al₂O₃, and SiO₂/Al₂O₃ ratios. Redox indicators (V/Cr, v/v + Ni, degree of pyritization (DOP), U/Th, and Mo contents) display positive correlations with TOC values, suggesting that an oxygen-depleted environment is necessary for organic matter (OM) preservation. The TOC values exhibit better regression coefficients (R²) against redox indicators, including DOP (0.43), U/Th (0.70), and Mo contents (0.62), than V/Cr (0.16) and v/v + Ni (0.21). This may because some V, Cr, and Ni is hosted in non-volcanic ashes within shales but not inherited from contemporaneous water columns. The greater scatter in TOC-DOP and TOC-Mo relative to TOC-U/Th relations may result from hydrothermal venting in shales, evidenced by the coexistence of framboid and euhedral pyrite and the previous finding of hydrothermally altered dolomites in the studied sections. There is no systematic relation between TOC and Ni/Co ratios, and this means that portions of Ni are contributed by non-visible volcanic ashes and Ni and Co are redistributed during the precipitation of hydrothermal pyrites due to their strong chalcophile affinities. Such a feature may further suggest that most pyrites are precipitated during hydrothermal venting. The DOP displays broad correlations with non-visible volcanic indicators, supporting that hydrothermal venting may be triggered by volcanic activities. The outcomes of this study highlight that caution is necessary when evaluating the sedimentary facies features of volcanism-affected organic-rich black shales with the used metallic proxies. Full article

Microbe–microbe interactions within a host drive shifts in the host’s microbiota composition, profoundly influencing host physiology, ecology, and evolution. Among these microbes, the maternally inherited endosymbiont Wolbachia is widespread in the invasive pest Liriomyza huidorbrensis (Diptera: Agromyzidae). However, its influence on the host microbiota remains largely unexplored. In the study presented herein, we investigated the bacterial communities of Wolbachia wLhui-infected (wLhui+) and -uninfected lines (wLhui−) of L. huidorbrensis using 16S rRNA gene high-throughput sequencing. For both leaf-miner lines, Bacteroidota was the dominant phylum (relative abundance: 59.18%), followed by Pseudomonadota (36.63%), Actinomycetota (2.42%), and Bacillota (0.93%). We found no significant differences in alpha-diversity indices between the wLhui+ and wLhui− lines (p > 0.05). However, principal coordinates analysis revealed significant differences in microbiota composition between the wLhui+ and wLhui− lines (PERMANOVA: p < 0.001), explaining 76.70% of the variance in microbiota composition. Correlation network analysis identified robust negative and positive associations between Wolbachia and several genera, suggesting that Wolbachia shapes microbial composition through competitive or cooperative interactions with specific taxa. Overall, our study suggests that Wolbachia plays a key role in shaping the leaf-miner microbiome, potentially affecting host fitness. Full article

Primary failure of tooth eruption (PFE) is a rare genetic disorder characterized by the failure of teeth to erupt in the absence of obvious physical obstructions, often resulting in a progressive open bite that is resistant to orthodontic treatment. While PFE can be caused by genetic or systemic factors (such as cysts, tumors, and endocrine imbalances), the non-syndromic causes are primarily genetic, with an autosomal dominant inheritance pattern with variable expressivity. Several genes have been closely associated with the non-syndromic PFE form. The PTH1R (parathyroid hormone 1 receptor) is the most commonly PFE-associated gene. Additional genes associated with minor frequency are Transmembrane protein 119 (TMEM119), which reduces the glycolytic efficiency of bone cells, limiting their mineralization capacity and causing bone fragility; Periostin (POSTN), which regulates the extracellular matrix and the bone’s response to mechanical stress; and Lysine (K)-specific methyltransferase 2C (KMT2C), which establishes histone methylation near the Wnt Family Member 5A (WNT5A) gene involved in dental development (odontogenesis). Syndromic forms of PFE are typically associated with complex multisystem disorders, where dental eruption failure is one of the clinical features of the spectrum. These syndromes are often linked to genetic variants that affect ectodermal development, craniofacial patterning, and skeletal growth, leading to abnormal tooth development and eruption patterns. Notable syndromes include GAPO syndrome, ectodermal dysplasia, and cleidocranial dysplasia, each contributing to PFE through distinct molecular mechanisms, such as disruptions in dental structure development, cranial abnormalities, or systemic developmental delays. The main aim of this review is to provide a comprehensive overview of the genetic basis underlying both syndromic and non-syndromic forms of PFE to facilitate precision diagnosis, foster the development of personalized therapeutic strategies, and offer new insights into managing this complex dental anomaly. Full article