Search Results (277)

Introduction: Establishing baseline descriptions of inorganic elements in the early life stages of sharks and in their respective nursery areas is essential for assessing anthropogenic impacts and supporting conservation strategies. Objectives: This study presents the first baseline of plasma trace element concentrations (Al, Zn, As, Cu, Cr, Cd, Co, Mn, Ti, Ni, Hg, Pb) for four juvenile shark species (Carcharhinus limbatus, Paragaleus pectoralis, Rhizoprionodon acutus, and Sphyrna lewini) from Sal Rei Bay, Boa Vista Island, Cabo Verde—the first multi-species shark nursery area described in Atlantic Africa. Methodology: Seawater and sediment samples were collected from eight sites and analyzed along with plasma samples using total reflection X-ray fluorescence spectroscopy (TXRF). Sediment granulometry and pollution indices, including the enrichment factor (EF), ecological risk index (RI), and metal pollution index (MPI), were used to characterize habitat contamination. Data were analyzed using statistical models to explore spatial and element-specific patterns. Results: Overall, environmental contamination was low, with slight increases in Cd, Co, and Hg at sites 1 and 2, near the fishing port, and at site 5, likely reflecting natural transport, sediment redistribution, and enhanced nearshore deposition. Juvenile sharks exhibited generally low plasma trace element concentrations, although species-specific elemental signatures were evident: elevated levels of Al and Cu in C. limbatus, Zn in S. lewini, and As in R. acutus and P. pectoralis. Conclusions: These findings establish critical baseline reference values for trace elements in juvenile sharks from a key Atlantic nursery area. The results provide an essential framework for future biomonitoring efforts and contribute to the management and conservation of Cabo Verdean shark nursery habitats. Full article

This study compares the response of five coal-derived post-mining waste streams from Poland and the Czech Republic to dry electrostatic and magnetic separation, with emphasis on rare earth element (REE) enrichment, product yield, and material variability. The materials included dump-derived wastes and process-derived streams from beneficiation operations. Electrostatic separation was performed on the <45 µm fraction, whereas magnetic separation was performed on the <3 mm fraction. Chemical composition was determined by ICP–MS, and process response was evaluated using enrichment factor (EF), product yield, and mass distribution. The ΣREE content of the feeds ranged from 109.33 to 250.54 ppm, while loss on ignition varied from 12.5% to 50.8%, confirming substantial heterogeneity. Electrostatic separation produced only moderate and material-specific enrichment, with EF ΣREE values generally close to unity and reaching a maximum of 1.26 for the Haldex K conductive product. Magnetic separation was less favourable, as most magnetic products showed ΣREE depletion or very low yields. Although the Haldex K paramagnetic product reached EF ΣREE = 1.30, its yield was only 0.2%. Overall, no tested configuration combined high REE enrichment with high product yield, indicating limited standalone beneficiation potential for the investigated materials. This study provides a comparative process-response assessment of low-grade, heterogeneous coal-derived post-mining waste streams and shows that dry electrostatic and magnetic separation can reveal material-dependent REE partitioning behaviour under laboratory conditions. Full article

This study quantifies the concentrations, spatial patterns, and sources of potentially toxic elements (PTEs) in Fluvisols from the Bosna River floodplain. Total As, Cr, Ni, Cu, Zn, Ba, V, and Co contents locally exceed national thresholds (e.g., As > 15 mg/kg, Cr > 80 mg/kg, Ni > 40 mg/kg), yet Ti-normalised enrichment factors mostly remain in the “no to minor” range (EF ≈ 1–3) and contamination factors in the “low to moderate” range (CF ≈ 1–3), indicating only slight to moderate enrichment even where absolute concentrations are high. Cr, Ni, Co, Ba, and V display similar spatial patterns, strong positive correlations with Mg and Fe, and consistently low EF values, confirming their predominantly geogenic origin linked to ultramafic and mafic parent rocks. In contrast, Cu, Zn, Pb, and Cd form coherent spatial clusters, share positive correlations, and show slightly elevated EF and CF values in flooded soils (typically EF and CF between 1 and 3), indicating diffuse industrial and agricultural inputs superimposed on a strong natural background. Flooding did not uniformly increase PTE concentrations but enhanced spatial heterogeneity and reorganised geochemical associations, particularly for Zn, As, and Cd, while the observed links between inorganic carbon (TIC), Ca, and Mg indicate that carbonate buffering and base cations help constrain metal mobility rather than exert a dominant control on all elements. The novelty of this work lies in integrating Ti-normalised EF and CF referenced to a local Fluvisol background with high-resolution GIS mapping and paired flooded versus control multivariate analysis, providing a quantitative, transferable framework to disentangle geogenic and anthropogenic signals and to prioritise post-flood monitoring of As, Cu, Zn, Pb, and Cd in naturally metal-rich floodplains. Full article

Despite the proliferation of mining and industrial activities within the Mano River Union member states, sediment quality assessment remains limited due to the lack of a comprehensive geochemical dataset. To narrow this knowledge gap, we evaluated heavy metal(loid) concentrations in stream sediments from Lofa County, Liberia. A total of 313 samples were collected and analyzed for eight metal(loid)s (Cu, Pb, Zn, Cr, Cd, Ni, As, and Hg). The contamination factor (CF), enrichment factor (EF), geoaccumulation index (Igeo), and potential ecological risk index (PERI) were calculated independently against two background values: the average shale and upper continental crust (UCC) values. The UCC background values proved more appropriate than average shale for Liberia’s geographic location and geological setting, providing results that align with the empirical data. The results show that zinc concentrations were consistently low across all sampling sites, indicating regional depletion of the micronutrient. Despite variations in the methodological approaches, assessment results from all four indices identified mercury and arsenic as the contaminants of primary concern. The varying degrees of metal(loid) enrichment and depletion necessitate further research in the study area. This study should guide policymakers in devising a sustainable plan for tackling site-based contamination and delivering on the United Nations Sustainable Development Goal 6.3. Full article

The application of machine learning (ML) models to accelerate the discovery of high-transfection-potency ionizable lipids has gained significant momentum in advancing lipid nanoparticle (LNP)-mediated RNA delivery. In the present study, we adopt a screening-oriented evaluation framework based on early-recognition ranking metrics tailored to high-throughput discovery. Model performance was assessed using the enrichment factor (EF), normalized discounted cumulative gain (NDCG), and HitRate at the top 10% of the ranked list, with uncertainty quantified via 1000 nonparametric bootstrap resamples. To assess robustness of conclusions, additional analyses were conducted at the top 1% and top 5% thresholds, reflecting increasingly stringent prioritization scenarios. Four predictive models—XGBoost, Random Forest, Elastic Net, and Quantile Regression Forest—were evaluated across three molecular feature representations, circular Morgan fingerprints, expert-crafted descriptors, and Grover graph embeddings, using a held-out test set. Across all models and thresholds, Morgan fingerprints consistently yielded superior early-recognition performance. The best-performing configuration—XGBoost with Morgan fingerprints—achieved EF@10% = 4.850 (95% CI [3.182, 6.818]), NDCG@10% = 0.628 (95% CI [0.234, 0.909]), and HitRate@10% = 0.493 (95% CI [0.318, 0.683]), corresponding to nearly fivefold enrichment over random selection and identification of highly potent lipids in approximately half of the prioritized candidates. Threshold-sensitivity analyses revealed that although stricter cutoffs (top 1% and top 5%) exhibit greater variability, the relative performance ordering of molecular representations remains stable. Bootstrap distributional comparisons further demonstrate that Morgan fingerprints provide not only higher but also more consistent screening performance than expert descriptors and Grover embeddings. Collectively, these results indicate that molecular representation—rather than model architecture—is the primary determinant of early-recognition performance in ionizable lipid discovery and that this conclusion is robust across multiple screening depths. Full article

This study presents a comprehensive geochemical and isotopic investigation of urban stream sediments draining into the Keban Dam Lake in Eastern Türkiye. A total of 15 sediment samples were collected along a ~35 km transect, spanning rural-to-urban transition zones. PAAS-normalised REE patterns revealed coherent light REE behaviour and positive Eu anomalies (Eu/Eu* = 1.57–2.01), except sample K8 (Eu/Eu* = 0.91), indicating contributions from plagioclase-bearing lithologies. Enrichment Factor (EF) calculations based on scandium normalisation showed notable enrichment in Li, Zr, Nb, and REEs, reflecting felsic source rocks and mineralogical sorting. Multivariate statistical analyses (PCA and HCA) revealed distinct groupings of elements associated with lithogenic sources (Be, Sc, and Y) and anthropogenic inputs (Li, Sn, and Rb). Spatial clustering of samples into rural, transitional, and urban zones supported this differentiation, suggesting increasing anthropogenic influence downstream. Sr isotopic data (⁸⁷Sr/⁸⁶Sr = 0.7045–0.7057) and Pb isotope ratios (²⁰⁶Pb/²⁰⁴Pb = 18.914–18.947) suggest dominantly geogenic control, with slightly more radiogenic signatures in urban sediments. These integrated geochemical and isotopic results provide the provenance model for the Keban catchment, highlighting how natural lithological sources and urbanisation jointly shape sediment composition and metal distribution. The findings also provide a useful geochemical baseline for environmental monitoring, sediment quality assessment, and sustainable watershed management in the Keban Dam Lake basin. Full article

Understanding the development characteristics and controlling factors of organic-rich shales in carbonate platform settings is essential for predicting their distribution and assessing their natural gas exploration potential. However, the mechanisms governing the accumulation of such shales in these specific sedimentary environments remain poorly constrained, and the lack of integrated petrological and geochemical studies limits accurate evaluation of their resource potential. The key objective of this study is to investigate the development characteristics and formation mechanisms of organic-rich shales within intraplatform depressions. To address this objective, we conducted a comprehensive petrological and geochemical analysis of the Cambrian Shuijingtuo Formation organic-rich shale deposits deposited in a carbonate platform setting, particularly from Well EYY3 in Western Hubei, Central Yangtze region. The obtained results indicate that total organic carbon (TOC) contents in the Shuijingtuo Formation can reach up to 4.77%, with a thickness of approximately 9.5 m for shales containing over 2% TOC. Vertically, TOC content exhibits a rapid increase at the base, followed by a gradual decline toward the top, reflecting the evolution of depositional environments. The characteristics of organic-rich shale indicate a significant presence of carbonate minerals, which increase in concentration, alongside tuff lenticular bodies and lithological transition surfaces between tuff and shale. While the longitudinal variation of SiO₂ content in shale is subtle, there is a slight increase in land-sourced clasts and excess silica, and TOC has a significant positive correlation. At the base of the Shuijingtuo Formation, redox parameters, including U-EF and Mo-EF, display a rapid increase followed by a gradual decrease. Conversely, changes in Ni-EF, which indicate paleoproductivity, are less pronounced, and their correlation with TOC is relatively poor. These findings suggest that rapid sea-level rise associated with Cambrian transgressions was the main factor influencing organic matter enrichment in the carbonate platform depressions. This rise supplied nutrients and silica-rich organisms, altering the biological landscape and fostering anoxic conditions in the intraplatform depressions, promoting organic-rich shale formation. As sea levels declined, water circulation became restricted, leading to oxidation of shallow water bodies, decreased paleoproductivity, and shale deposits transitioned to tuff. Therefore, organic-rich shale can also be developed on carbonate platforms, with its formation primarily controlled by fluctuations in sea level. During highstand periods, intraplatform depressions may serve as favorable zones for shale gas exploration. Full article

Revitalisation of contaminated brownfield sites is essential for sustainable development, particularly near sensitive ecological areas like Natura 2000 sites. The lagoon in Slovenia’s Regional Park Šturmovci, an artificial wastewater convergence point created during hydroelectric construction, is a highly relevant example. This study integrates geochemical, mineralogical and isotopic analyses to identify sources and controlling mechanisms of contaminant distribution in lagoon sediments and assess their transfer to nearby agricultural soils during flooding events. Results indicate anaerobic conditions, with depth-related shifts in phosphorus, sulphur and redox-sensitive elements, such as rare earth elements (REE), arsenic (As), barium (Ba), cobalt (Co), chromium (Cr), lead (Pb) and vanadium (V), as well as fluctuations in pyrite-rich laminated layers, suggesting potential flood-driven remobilisation of trace elements. Lagoon sediments are highly contaminated with As (73 mg kg⁻¹), Ba (247 mg kg⁻¹), Pb (97 mg kg⁻¹) and Zn (1118 mg kg⁻¹), with elevated concentrations also observed in agricultural soil, all exceeding respective limit values of 20, 160, 85 and 200 mg kg⁻¹. Pollutant concentrations were highest near wastewater inflows and decreased with distance, with nitrogen isotopic patterns indicating partial nitrification and surface ammonium accumulation, reflecting intensive agricultural inputs in the area. High enrichment factor (EF > 20) and geoaccumulation index (I_geo > 3) values, in particular for As, Cd and Zn, indicated severe contamination and highlighted the urgent need for effective remediation strategies, including immobilisation using biochar or cement-based binders, as well as phytoremediation approaches. Full article

Heavy metals in lake sediments represent typical persistent contaminants characterized by recalcitrance, bioaccumulation potential, and delayed toxic effects, thereby exerting sustained adverse impacts on lacustrine ecosystem stability and human health. Liuye Lake is a representative small-to-medium urban lake impacted by ambient domestic sewage discharge and agricultural non-point source pollution, with documented nitrogen and phosphorus enrichment. However, the contamination profile of heavy metals in its surface sediments has not been systematically investigated to date. In this work, surface sediment samples were collected from Liuye Lake, and nine heavy metal elements (As, Cd, Cr, Cu, Hg, Mn, Ni, Pb, Zn) were determined. An integrated approach incorporating Monte Carlo simulation, the geo-accumulation index (I_geo), and the enrichment factor (EF) method was employed to assess the ecological risk and human health risk imposed by these metals. The results revealed the following: (1) Average concentrations of eight heavy metals exceeded the background values of the Dongting Lake water system, with the exception of As, and Hg displayed potential localized anomalies. (2) Surface sediments were collectively categorized as slightly contaminated, with Hg identified as the primary pollutant, followed by minor contamination of Mn, Cr, and Ni; Monte Carlo simulation further suggested a probable risk that Mn contamination could progress to moderate levels. (3) All heavy metals posed low potential ecological risk, with an overall potential ecological risk index (RI) of 62.71, where Cd, Hg, and As were the dominant contributors. (4) Both non-carcinogenic and carcinogenic risks were generally within acceptable limits, whereas children exhibited higher non-carcinogenic susceptibility relative to adults; As and Mn were the leading contributors to non-carcinogenic risk, while Cr and As dominated carcinogenic risk. This study offers a scientific foundation for the prevention and control of heavy metal pollution and the ecological management of urban lakes. Full article

Arsenic (As) and mercury (Hg) are trace elements of major environmental and public health concern. Their relevance is due to their well-documented toxicological effects. In rapidly urbanizing port-industrial cities, soil contamination by these elements represents a critical challenge. This situation compromises sustainable urban development and environmental governance. This study had three main objectives: First, to evaluate the contamination status of As and Hg in urban soils using multiple geochemical indices; Second, to assess the potential human health risks associated with exposure in the urban environment of Talcahuano; Third, to identify the relative contributions of geogenic and anthropogenic sources based on spatial distribution patterns. A total of 420 soil samples were collected. These included 140 topsoil samples (TS; 0–10 cm), 140 subsoil samples (SS; 10–20 cm), and 140 deep-soil samples (DS; 150 cm). Arsenic concentrations were determined using hydride-generation atomic absorption spectrometry (HG-AAS). Mercury concentrations were measured by cold-vapour atomic absorption spectrometry (CV-AAS). Median As concentrations were 2.7 mg kg⁻¹ in TS, 3.1 mg kg⁻¹ in SS, and 2.5 mg kg⁻¹ in DS. The corresponding median Hg concentrations were 0.2 mg kg⁻¹ in TS and 1.4 mg kg⁻¹ in both SS and DS. Spatial distribution maps were generated through ordinary kriging interpolation. Geochemical baseline values were calculated using the median + 2 × MAD approach. The resulting baseline values were 7.8 mg kg⁻¹ for As and 3.6 mg kg⁻¹ for Hg. Contamination assessment was conducted using the geoaccumulation index (Igeo), enrichment factor (EF), and contamination factor (Cf). Results indicate that most soils are classified as uncontaminated. Enrichment levels were minimal and contamination factors were low. Nevertheless, isolated outliers were identified. These included one significantly enriched As sample and several moderately enriched or slightly contaminated Hg samples. Human health risk assessment incorporated the Hazard Index (HI) and Total Carcinogenic Risk (TCR). Results indicate that neither non-carcinogenic nor carcinogenic risks exceed acceptable thresholds at any investigated soil depth. Spatial analysis suggests that anthropogenic activities are the dominant sources of As and Hg in the study area. Traffic emissions and industrial activities appear to be the primary contributors. Full article

Industrial coastal basins that host heavy industry can concentrate metal-bearing dust in school environments. We performed a screening multi-matrix assessment across six schools in Quintero–Puchuncaví (central Chile). We measured As, Cd, Cr, Cu, Ni, Pb, and Mn in surface soils (winter 2023; E1–E4 only), indoor settled dust, and settleable particulate matter (SPM) collected in winter (July 2023) and summer (November 2023). Concentrations were determined by ICP-OES/ICP-MS and interpreted with enrichment factors and the geoaccumulation index. A U.S. EPA screening framework was used to estimate non-carcinogenic hazard (HQ) and incremental lifetime cancer risk (ILCR) for ingestion, inhalation, and dermal contact, as well as cumulative indices for non-carcinogenic (HI) and carcinogenic risk (Risk). SPM carried the strongest anthropogenic signal (EF up to 9900 for Cd, 408 for Cu, and 143 for Pb) and the highest summer loads (Cu > 5000 mg kg⁻¹; Ni > 1000 mg kg⁻¹). Cu dominated non-carcinogenic hazard (HQ up to 137), whereas ILCR was driven by Ni, As, and Cr, exceeding 10⁻⁴ and reaching 10⁻³ at inland/valley schools in summer. Indoor dust showed intermediate burdens, indicating indoor accumulation of outdoor-derived metals, while the winter soil survey provides a baseline indication of outdoor metal reservoirs at the sampled schools. Despite the limited sample size, the results provide screening-level evidence to inform emission control and dust mitigation in school microenvironments. Full article

This study comprehensively evaluates the elemental composition of soil and Pinus species needle samples across 25 distinct plots established along the D825 highway in Kahramanmaraş, Türkiye. Located at the confluence of the Mediterranean, East Anatolian, and Central Anatolian regions, this area represents a critical ecological transition zone. A total of 75 soil and 75 needle samples were analyzed in triplicate to assess heavy metal contamination and potential toxicity risks across these elevation gradients. According to the results, the Geoaccumulation Index (I_geo) values for all examined metals remained below zero, categorizing the study area as “unpolluted.” Enrichment Factor (EF) analyses confirmed the lithogenic origin of Cr, Mn, and Ni; however, Lead (Pb) and Cadmium (Cd) exhibited an EF of 1.34. This ‘minimal enrichment’ could potentially be associated with anthropogenic pressures, possibly stemming from traffic emissions on the highway. Although current metal levels fall below global toxicity thresholds (WHO/FAO), the positive skewness and high variation in Pb and Cd distributions suggest a likelihood of localized accumulation, which may warrant systematic monitoring. The original contribution of this study lies in its integrated assessment of plant–soil barrier mechanisms within this unique transition zone, demonstrating how forest ecosystems maintain resilience capacity despite ophiolitic parent material contributions. While soil Cr and Ni levels were elevated due to the geological structure, plant tissue concentrations remained within safe physiological limits, suggesting effective stabilization within the soil-biomass matrix. The findings suggest that these forest ecosystems play a key role in maintaining ecological health and environmental sustainability against potential anthropogenic encroachment in this strategic intersection. Full article

To investigate the pollution characteristics, potential risks and source apportionment of heavy metals in soil particles from urban parks in Taiyuan, Shanxi Province, China, thirty soil samples were collected and processed into soil particles, and the concentrations of Cr, Ni, Cu, Zn, Pb, Cd, As, and Hg were subsequently measured. The results demonstrated that the mean concentrations of all eight heavy metals exceeded the natural lithogenic background values of Shanxi Province, with Hg, Cr, Pb and Cd exhibiting high variability. Obvious heavy metal accumulation was observed in the central urban area of Taiyuan, and Cd in park soil particles posed moderate to heavy contamination. The coefficient of variation (CV) values for Hg, Cr, Pb, and Cd were above 35%, and their enrichment factor (EF) values were greater than 1.5, implying that contamination of these four heavy metals was predominantly influenced by anthropogenic activities. The potential ecological risk index (RI) and contamination severity index (CSI) revealed that most sampling sites exhibited strong ecological hazards. Both non-carcinogenic and carcinogenic risks associated with heavy metals were within acceptable thresholds for both adults and children. Compared to adults, children were identified as being more vulnerable to heavy metal exposure than adults. Positive matrix factorization (PMF) analysis identified four primary sources: traffic emissions (Cu, Zn, Pb, and Cd), horticultural activities (Hg), natural sources (As), and industrial emissions (Cr, Ni), which contributed 33.53%, 27.03%, 15.62%, and 23.82% to the total heavy metal load, respectively. The findings of this study provide a scientific basis for the prevention, control, and management of heavy metal pollution in urban park soils. Full article

The Tunca River is a transboundary watercourse between Türkiye and Bulgaria. It is the longest tributary of the Meriç River System (MRS) and joins the Meriç River in Türkiye after flowing through Bulgarian territory. In this study, the concentrations of Potentially Toxic Elements (PTEs), including As, Cd, Co, Cr, Cu, Hg, Mn, Ni, Pb, Sb, and Zn, as well as lead (Pb) isotope compositions, in sediments from the Turkish section of the Tunca River were investigated. Contamination levels and ecological risk status were evaluated using single and integrated indices and Sediment Quality Guidelines (SQGs). According to the Geoaccumulation Index (I_geo), Enrichment Factor (EF), and Contamination Factor (Cf) values, As, Cd, Mn, and Pb exhibit moderate to considerable levels of contamination. Pollution Load Index (PLI) and Modified Degree of Contamination (mCdeg) values indicate that pollution from total metal loads locally reaches moderate to high levels. PTE concentrations were below Threshold Effect Concentration (TEC) values, suggesting a low probability of adverse biological effects. However, the Potential Ecological Risk Index (PERI) values indicate locally moderate to high ecological risk of total metal loads. Geostatistical analyses suggest that Cd, Co, Cr, Cu, Hg, Ni, Pb, and Zn are of geogenic origin, whereas As, Sb, and Mn are associated with anthropogenic sources. The ²⁰⁶Pb/²⁰⁷Pb ratios in the sediments range from 1.18 to 1.25, while the ²⁰⁸Pb/²⁰⁶Pb ratios vary between 2.07 and 2.22. These values deviate slightly from natural isotopic signatures, suggesting anthropogenic influence on Pb concentrations. Full article

Background: Ankylosis of the temporomandibular joint (TMJ) is a rare developmental disorder that involves fibrous or bony fusion within the joint. It is a severe structural and functional disorder. Typically, the phenotype manifests as joint immobilization and results in facial deformity and trismus. To date, ankylosis is rarely diagnosed as congenital and its occurrence mechanism has not been thoroughly understood. We observed a female patient who as a newborn showed slight facial asymmetry and impaired mandibular retraction. In addition, non-uniform occlusal fissures were noted; the lower part of the left earlobe was slightly smaller than the right earlobe. The aim of the work was the identification of pathogenic variants in the genome related to ankylosis. Ankylosis has no known causative gene yet; thus, Whole Exome Sequencing (WES) was performed. Materials and Methods: We observed a female patient with facial asymmetry and impaired mandibular retraction from birth. No phenotypic abnormalities were noted on the head or elsewhere on the body. A diagnostic computed tomography (CT) scan of the head performed at five months of age led to the diagnosis of congenital zygomatic-coronoid ankylosis. Genomic DNA samples were subjected to WES. Library preparation was carried out using the Twist Library Preparation EF Kit 2.0, followed by target enrichment with the Twist Exome 2.0 Plus Comprehensive Exome. Sequencing reads were aligned to the human reference genome (GRCh38), and variant calling was performed using standard bioinformatics workflows. Variants were subsequently filtered, annotated, and interpreted using VariantStudio. Assessment of variant pathogenicity was primarily based on comparisons with public databases, including ClinVar and VarSome, and was supported by in silico prediction tools such as SIFT and PolyPhen-2. Results: In genes responsible for disorders of the I and II pharyngeal arches, three pathogenic variants were identified: in the genes TCOF1 and POLR1B, responsible for the development of Treacher Collins syndrome (TCS), and one in the DHODH gene, responsible for Miller syndrome. Additionally, in genes that have not been linked so far with rare facial disorders, 42 variants were identified, of which 8 are listed as pathogenic. We present the first described patient with congenital ankylosis, who, although showing no phenotypic features of these syndromes, has identified pathogenic variants in genes responsible for craniofacial dysostosis. Conclusions: Variants in TCOF1, POLR1B and DHODH may represent candidate genetic factors associated with susceptibility to ankylosis. WES analysis is an appropriate method in the case of patients with congenital diseases with unknown genetic origin. In this study we provide a comprehensive list of all identified pathogenic variants. This might be useful for scientists searching for the genetic background of skeletal system issues, one of which could be bone and fibrous tissue remodeling. Full article