Dehydration-induced corrugated folding in Rhapis excelsa plant leaves.

Plant leaves, whose remarkable ability for morphogenesis results in a wide range of petal and leaf shapes in response to environmental cues, have inspired scientific studies as well as the development of engineering structures and devices. Although some typical shape changes in plants and the driving force for such shape evolution have been extensively studied, there remain many poorly understood mechanisms, characteristics, and principles associated with the vast array of shape formation of plant leaves in nature. Here, we present a comprehensive study that combines experiment, theory, and numerical simulations of one such topic-the mechanics and mechanisms of corrugated leaf folding induced by differential shrinking in Rhapis excelsa. Through systematic measurements of the dehydration process in sectioned leaves, we identify a linear correlation between change in the leaf-folding angle and water loss. Building on experimental findings, we develop a generalized model that provides a scaling relationship for water loss in sectioned leaves. Furthermore, our study reveals that corrugated folding induced by dehydration in R. excelsa leaves is achieved by the deformation of a structural architecture-the "hinge" cells. Utilizing such connections among structure, morphology, environmental stimuli, and mechanics, we fabricate several biomimetic machines, including a humidity sensor and morphing devices capable of folding in response to dehydration. The mechanisms of corrugated folding in R. excelsa identified in this work provide a general understanding of the interactions between plant leaves and water. The actuation mechanisms identified in this study also provide insights into the rational design of soft machines.

Strigolactones alleviate AlCl3 stress by vacuolar compartmentalization and cell wall blocking in apple.

Poor management and excess fertilization of apple (Malus domestica Borkh.) orchards are causing increasingly serious soil acidification, resulting in Al toxicity and direct poisoning of roots. Strigolactones (SLs) are reported to be involved in plant responses to abiotic stress, but their role and mechanism under AlCl3 stress remain unknown. Here, we found that applying 1 µm GR24 (an SL analoge) significantly alleviated AlCl3 stress of M26 apple rootstock, mainly by blocking the movement of Al through cell wall and by vacuolar compartmentalization of Al. RNA-seq analysis identified the core transcription factor gene MdWRKY53, and overexpressing MdWRKY53 enhanced AlCl3 tolerance in transgenic apple plants through the same mechanism as GR24. Subsequently, we identified MdPMEI45 (encoding pectin methylesterase inhibitor) and MdALS3 (encoding an Al transporter) as downstream target genes of MdWRKY53 using chromatin immunoprecipitation followed by sequencing (ChIP-seq). GR24 enhanced the interaction between MdWRKY53 and the transcription factor MdTCP15, further increasing the binding of MdWRKY53 to the MdPMEI45 promoter and inducing MdPMEI45 expression to prevent Al from crossing cell wall. MdWRKY53 also bound to the promoter of MdALS3 and enhanced its transcription to compartmentalize Al in vacuoles under AlCl3 stress. We therefore identified two modules involved in alleviating AlCl3 stress in woody plant apple: the SL-WRKY+TCP-PMEI module required for excluding external Al by blocking the entry of Al3+ into cells and the SL-WRKY-ALS module allowing internal detoxification of Al through vacuolar compartmentalization. These findings lay a foundation for the practical application of SLs in agriculture.

Three-dimensional detection of CO2 and wind using a 1.57 µm coherent differential absorption lidar.

A 1.57-µm coherent differential absorption lidar is demonstrated for measuring three-dimensional CO2 and wind fields simultaneously. The maximum detection range of CO2 is up to 6 km with a range resolution of 120 m and a time resolution of 1 min. A preliminary assessment of instrument performance is made with a 1-week continuous observation. The CO2 concentration over a column from 1920 to 2040 m is compared with the one measured by an optical cavity ring-down spectrometer placed on a 2 km-away meteorological tower. The concentration is strongly correlated with the in-situ spectrometer with a correlation coefficient and RMSE of 0.91 and 5.24 ppm. The measurement accuracy of CO2 is specified with a mean and standard deviation of 2.05 ppm and 7.18 ppm, respectively. The regional CO2 concentration and the three-dimensional wind fields are obtained through different scanning modes. Further analysis is conducted on vertical mixing and horizontal transport of CO2 by combining with the measured wind fields.

Pd-Catalyzed Aerobic Synthesis of Allylic Sulfones from Allylic Alcohols and Sulfonyl Hydrazines in Water.

A mild and green synthesis of allylic sulfones from allylic alcohols and sulfonyl hydrazines was developed in water media. The simple and commercially available Pd(PPh3)4 is used as the best catalyst, and the reaction can proceed smoothly at 40 °C under air. This new method does not require the common nitrogen protection and organic media, and can be readily scaled up in gram scale, showing the good practicality value.

Presentation, management, and outcomes of norovirus in adult and pediatric solid organ and hematopoietic stem cell transplant recipients: A multicenter, retrospective study.

BACKGROUND: Norovirus (NoV) can cause chronic relapsing and remitting diarrhea in immunocompromised patients.  Few multicenter studies have described the clinical course, outcomes, and complications of chronic NoV in transplant recipients. METHODS: A multicenter retrospective study of adult and pediatric SOT and HSCT recipients diagnosed with NoV between November 1, 2017, and February 28, 2021. Data were obtained from electronic medical records (EMR) and entered into a central REDCap database. Descriptive statistics were calculated. RESULTS: A total of 280 NoV+ patients were identified across eight sites. The majority were adults (74.1%) and SOT recipients (91.4%). Initial diagnosis of NoV occurred a median of 36 months post-Tx (IQR [15.0, 90.0]). Most NoV cases had >3 diarrheal episodes daily (66.0%), nausea and vomiting (60.1%). Duration of diarrhea varied greatly (median = 10 days, mean = 85.9 days, range (1, 2100)). 71.3% were hospitalized. Adjustment of immunosuppression, including reduction and discontinuation of mToR inhibitor, CNI, and/or MMF, was the most common management intervention for NoV. Other therapies resulted only in temporary improvement. Four patients died within 30 days and three others died by 180 days postdiagnosis. Clinically significant renal dysfunction was observed in 12.5% by 30 days and 21.4% by 180 days post-NoV diagnosis. CONCLUSION: In HSCT and SOT patients, NoV frequently resulted in severe symptoms, prolonged diarrhea (30% persistent with diarrhea for >30 days), and clinically significant renal dysfunction (up to 21% of patients). Utilized therapies did not reliably result in the resolution of infection demonstrating the need for more effective treatment.

The distribution characteristics of strabismus surgery types in a tertiary hospital in the Central Plains region during the COVID-19 epidemic.

OBJECTIVE: This study aimed to analyze the distribution of different types of strabismus surgery in a tertiary hospital in Central China during the three-year period of the COVID-19 pandemic. METHODS: A retrospective analysis was conducted on the clinical data of strabismus patients who underwent surgery and were admitted to the Department of Strabismus and Pediatric Ophthalmology at the First Affiliated Hospital of Zhengzhou University between January 2020 and December 2022. RESULTS: A total of 3939 strabismus surgery patients were collected, including 1357 in 2020, 1451 in 2021, and 1131 in 2022. The number of surgeries decreased significantly in February 2020, August 2021, and November and December 2022. Patients aged 0-6 years accounted for 37% of the total number of strabismus surgery patientsr. The majority (60%) of all strabismus surgery patients were diagnosed with exotropia, with intermittent exotropia accounting for the highest proportion (53%). There was no statistically significant difference in the proportion of intermittent exotropia and constant exotropia during the three-year period (χ2 = 2.642, P = 0.267 and χ2 = 3.012, P = 0.221, respectively). Among patients with intermittent exotropia, insufficient convergence type was the most common form of strabismus (accounting for over 70%). Non-accommodative esotropia accounted for more than 50% of all internal strabismus cases. CONCLUSION: During the period from 2020 to 2022, the total number of strabismus surgeries in our hospital did not show significant fluctuations, but there was a noticeable decrease in the number of surgeries during months affected by the pandemic. Exotropia accounted for the highest proportion among strabismus surgery patients. Intermittent exotropia was the most common type among patients undergoing surgery for exotropia, and the most prevalent subtype was the insufficient convergence type. The age distribution of patients varied in different months, with a concentration of surgeries for strabismus patients in the 7-12 years old age group during the months of July and August each year.

Medical education challenges in Mainland China: An analysis of the application of problem-based learning.

BACKGROUND: The medical education system in mainland China faces numerous challenges and the lack of learner-centered approaches may contribute to passive learning and reduced student engagement. While problem-based learning (PBL) is common in Western medical schools, its feasibility in China is questioned due to cultural differences. This systematic review aims to summarize the application of PBL in medical education in mainland China based on existing literature, as well as to identify the challenges and opportunities encountered in its implementation. METHODS: A systematic literature review was conducted using electronic databases, including MEDLINE, Cochrane Library, EMBASE, Web of Science, Wan fang and CNKI databases. Grey literature sources were explored using Google Scholar. The search was limited to articles that include at least one English abstract up to May 1st, 2023. The inclusion criteria were studies that reported the use of PBL in medical education in mainland China. RESULTS: A total of 21 articles were included in the final analysis. The findings indicate that PBL is a well-adopted and effective learning method in most medical education, especially for developing critical thinking, problem-solving, and teamwork skills. However, the application of PBL in mainland China is limited due to various challenges, including faculty resistance, inadequate resources and cultural barriers. To effectively address these challenges, it is essential to provide faculty training, develop appropriate assessment methods to evaluate student progress within the PBL framework and create conducive spaces and resources that support collaborative learning and critical thinking. CONCLUSION: The utilization of PBL in mainland China holds potential for enhancing medical education. However, its successful implementation requires significant efforts to address the identified challenges. It is crucial to engage stakeholders in a collaborative effort to promote the application of PBL and ultimately improve the quality of medical education in mainland China.

E. urophylla × E. grandis high-quality genome and comparative genomics provide insights on evolution and diversification of eucalyptus.

BACKGROUND: Eucalyptus urophylla × Eucalyptus grandis, an economically important forest tree, provides important raw material for energy and reduces damage to native forests. However, the absence of a high-quality E. urophylla × E. grandis reference genome has significantly hindered its evolution and genetic analysis. RESULTS: We successfully presented a high-quality reference genome of E. urophylla × E. grandis (545.75 Mb; scaffold N50, 51.62 Mb) using a combination of the Illumina, PacBio HiFi, and Hi-C sequencing platforms. A total of 34,502 genes and 58.56% of the repetitive sequences in this genome were annotated. Using genome evolution analyses, we identified a recent whole-genome duplication (WGD) event in E. urophylla × E. grandis. We further found that gene families associated with starch and sucrose metabolism, flavonoid biosynthesis, and plant-pathogen interaction were significantly expanded in E. urophylla × E. grandis. Moreover, comparative genomic and evolutionary analyses showed large structural variations among the different chromosomes of the 34 Eucalyptus accessions, which were divided into six clades. CONCLUSIONS: Overall, our findings provide a valuable resource for expanding our understanding of the E. urophylla × E. grandis genome evolution, genetic improvement, and its comparative biology.

Identification of Toxicity Forcing Agents from Individual Aliphatic and Aromatic Disinfection Byproducts Formed in Drinking Water: Implications and Limitations.

Recently, a study found that aromatic DBP fractions dominate the overall toxicity of chlorinated drinking water. However, key toxicity drivers have not been reported via comprehensive evaluation based on the formation of aliphatic and aromatic DBPs in drinking water. In this study, the occurrence of 37 aliphatic and 19 aromatic DBPs in drinking samples with different water characteristics collected in a Chinese megacity was explored. According to the individual DBP concentrations and cytotoxicity potencies as well as the "TIC-Tox" method, haloacetonitriles and halonitrophenols were found to be the toxicity drivers among the measured aliphatic and aromatic DBPs, respectively. However, when aromatic and aliphatic DBPs are taken into consideration together, aliphatic DBPs were calculated to present higher toxicity contribution than aromatic DBPs, which is inconsistent with the previous study. TOX showed significant positive correlations with most aliphatic DBPs but no aromatic DBPs, and the overall toxicity of the water sample concentrates is significantly related to the total calculated cytotoxicity and aliphatic DBPs, suggesting that current selected aromatic DBPs are insufficient to represent the overall aromatic DBPs. UV254 and DOC rather than SUVA are better surrogates for predicting DBP formation potential for DOM with a lower humification degree as indicated by fluorescence results.

Donor-derived cell-free DNA levels predict graft injury in liver transplant recipients.

Donor-derived cell-free DNA (dd-cfDNA) has been evaluated as a rejection marker in organ transplantation. This study sought to assess the utility of dd-cfDNA to diagnose graft injury in liver transplant recipients (LTR) and as a predictive biomarker prior to different causes of graft dysfunction. Plasma from single and multicenter LTR cohorts was analyzed for dd-cfDNA. Phenotypes of treated biopsy-proven acute rejection (AR, N = 57), normal function (TX, N = 94), and acute dysfunction no rejection (ADNR; N = 68) were divided into training and test sets. In the training set, dd-cfDNA was significantly different between AR versus TX (AUC 0.95, 5.3% cutoff) and AR versus ADNR (AUC 0.71, 20.4% cutoff). Using these cutoffs in the test set, the accuracy and NPV were 87% and 100% (AR vs. TX) and 66.7% and 87.8% (AR vs. ADNR). Blood samples collected serially from LTR demonstrated incremental elevations in dd-cfDNA prior to the onset of graft dysfunction (AR > ADNR), but not in TX. Dd-cfDNA also decreased following treatment of rejection. In conclusion, the serial elevation of dd-cfDNA identifies pre-clinical graft injury in the context of normal liver function tests and is greatest in rejection. This biomarker may help detect early signs of graft injury and rejection to inform LTR management strategies.

Bio-enrichment of heavy metals U(VI) in wastewater by protein DSR A.

Uptaking U(VI) from the environment by biological method is an environmental friendly and efficient way. In this work, we have acquired and isolated the protein DSR A by genetic engineering, then assessed its capacity and mechanisms to absorb U(VI) from wastewater. As results, we proved that protein DSR A can precisely recognize, enrich and remove uranyl ions in simulated wastewater solution. Its great removal potential was demonstrated in the adsorption experiments, the adsorption capacity of protein DSR A can reach 182.3 mg/g in the condition at 10 mg/L U(VI) and pH = 6. The Langmuir isotherm model and the pseudo-first-order kinetic equation were used to better describe the absorption process. We can confirm that Na+, Sr2+ and K+, these three metal ions have less effect on the enrichment of U(VI) by protein DSR A compared with other common cations. Besides, we can educe some mechanisms for the removal of U (VI) by protein DSR A from the results of FTIR, SEM-EDS, XPS (binding energy = 2.0 ~ 4.0ke V), MAP and XRD analysis before and after adsorption. This work has demonstrated the great potential of genetic engineering and biological methods in dealing with environmental heavy ion pollution.

Discovery and Validation of a Biomarker Model (PRESERVE) Predictive of Renal Outcomes After Liver Transplantation.

BACKGROUND AND AIMS: A high proportion of patients develop chronic kidney disease (CKD) after liver transplantation (LT). We aimed to develop clinical/protein models to predict future glomerular filtration rate (GFR) deterioration in this population. APPROACH AND RESULTS: In independent multicenter discovery (CTOT14) and single-center validation (BUMC) cohorts, we analyzed kidney injury proteins in serum/plasma samples at month 3 after LT in recipients with preserved GFR who demonstrated subsequent GFR deterioration versus preservation by year 1 and year 5 in the BUMC cohort. In CTOT14, we also examined correlations between serial protein levels and GFR over the first year. A month 3 predictive model was constructed from clinical and protein level variables using the CTOT14 cohort (n = 60). Levels of ß-2 microglobulin and CD40 antigen and presence of hepatitis C virus (HCV) infection predicted early (year 1) GFR deterioration (area under the curve [AUC], 0.814). We observed excellent validation of this model (AUC, 0.801) in the BUMC cohort (n = 50) who had both early and late (year 5) GFR deterioration. At an optimal threshold, the model had the following performance characteristics in CTOT14 and BUMC, respectively: accuracy (0.75, 0.8), sensitivity (0.71, 0.67), specificity (0.78, 0.88), positive predictive value (0.74, 0.75), and negative predictive value (0.76, 0.82). In the serial CTOT14 analysis, several proteins, including ß-2 microglobulin and CD40, correlated with GFR changes over the first year. CONCLUSIONS: We have validated a clinical/protein model (PRESERVE) that early after LT can predict future renal deterioration versus preservation with high accuracy. This model may help select recipients at higher risk for subsequent CKD for early, proactive renal sparing strategies.

Treatment of multidrug-resistant gram-negative bacilli after solid organ transplant: Outcomes and complications.

BACKGROUND: Infections caused by multidrug-resistant gram-negative bacilli (GNB) cause significant morbidity and mortality in solid organ transplant (SOT) recipients. METHODS: We retrospectively collected data from all SOT recipients at a single center from 1 January 2007 to 15 April 2017 treated for infections caused by multi-drug-resistant GNB. This study examined the effects of specific antibiotics on nephrotoxicity, neurotoxicity, 30-day mortality, and length of stay in the hospital and intensive care unit. RESULTS: A total of 225 infections were identified among 143 patients. Carbapenem-sensitive organisms were present in 112 (49.8%) infections and were associated with decreased 30-day mortality (OR 0.35, 95% CI 0.16-0.75). Neurotoxicity was associated with polymyxin use with an 8% increase in odds of neurotoxicity per day of exposure (P=.03). There was no relationship between nephrotoxicity and any individual antibiotic class. Increased hospital length-of-stay occurred among patients exposed to aminoglycosides (ß-statistic = 0.48 (0.23); P = .04), while there was no relationship between antibiotic class and intensive care unit (ICU) length-of-stay. Mortality at 30 days occurred in 37 infections (16%). Carbapenem exposure was associated with decreased 30-day mortality (OR 0.93; 95% CI 0.90-0.98; P = .02). No other antibiotic class had a significant impact on 30-day mortality. CONCLUSIONS: Carbapenems appear to be a safe and effective treatment for solid-organ transplant recipients with infections caused by carbapenem-sensitive multidrug-resistant GNB; treatment of carbapenem-resistant gram-negatives remains challenging.

Application Progress of Deinococcus radiodurans in Biological Treatment of Radioactive Uranium-Containing Wastewater.

Radioactive uranium wastewater contains a large amount of radionuclide uranium and other heavy metal ions. The radioactive uranium wastewater discharged into the environment will not only pollute the natural environment, but also threat human health. Therefore, the treatment of radioactive uranium wastewater is a current research focus for many researchers. The treatment in radioactive uranium wastewater mainly includes physical, chemical and biological methods. At present, the using of biological treatment to treat uranium in radioactive uranium wastewater has been gradually shown its superiority and advantages. Deinococcus radiodurans is a famous microorganism with the most radiation resistant to ionizing radiation in the world, and can also resist various other extreme pressures. D. radiodurans can be directly used for the adsorption of uranium in radioactive waste water, and it can also transform other functional genes into D. radiodurans to construct genetically engineered bacteria, and then applied to the treatment of radioactive uranium containing wastewater. Radionuclides uranium in radioactive uranium-containing wastewater treated by D. radiodurans involves a lot of mechanisms. This article reviews currently the application of D. radiodurans that directly or construct genetically engineered bacteria in the treatment of radioactive uranium wastewater and discusses the mechanism of D. radiodurans in bioremediation of uranium. The application of constructing an engineered bacteria of D. radiodurans with powerful functions in uranium-containing wastewater is prospected.

Discovery and validation of a novel blood-based molecular biomarker of rejection following liver transplantation.

Noninvasive biomarker profiles of acute rejection (AR) could affect the management of liver transplant (LT) recipients. Peripheral blood was collected following LT for discovery (Northwestern University [NU]) and validation (National Institute of Allergy and Infectious Diseases Clinical Trials in Organ Transplantation [CTOT]-14 study). Blood gene profiling was paired with biopsies showing AR or ADNR (acute dysfunction no rejection) as well as stable graft function samples (Transplant eXcellent-TX). CTOT-14 subjects had serial collections prior to AR, ADNR, TX, and after AR treatment. NU cohort gene expression (46 AR, 45 TX) was analyzed using random forest models to generate a classifier training set (36 gene probe) distinguishing AR vs TX (area under the curve 0.92). The algorithm and threshold were locked and tested on the CTOT-14 validation cohort (14 AR, 50 TX), yielding an accuracy of 0.77, sensitivity 0.57, specificity 0.82, positive predictive value (PPV) 0.47, and negative predictive value (NPV) 0.87 for AR vs TX. The probability score line slopes were positive preceding AR, and negative preceding TX and non-AR (TX + ADNR) (P ≤ .001) and following AR treatment. In conclusion, we have developed a blood biomarker diagnostic for AR that can be detected prior to AR-associated graft injury as well a normal graft function (non-AR). Further studies are needed to evaluate its utility in precision-guided immunosuppression optimization following LT.

MARVELD1 modulates cell surface morphology and suppresses epithelial-mesenchymal transition in non-small cell lung cancer.

Integrins have been known to play pivotal roles in malignant progression and epithelial-mesenchymal transition (EMT) of non-small cell lung cancer (NSCLC). We previously demonstrated that MARVELD1, a potential tumor suppressor, is epigenetically silenced in multiple cancer cells. In this study, we found MARVELD1 silencing altered cell surface ultrastructure of NSCLC cells and inhibited the formation of punctate integrin ß1/ß4 cluster in microvillus, whereas MARVELD1 overexpression suppressed TGF-ß1-induced EMT. Remarkably, the balance of integrin ß1 and ß4 was modulated by MARVELD1. MARVELD1 silencing led to imbalance of integrin ß1/ß4 and significantly reduced microvillus length, furthermore affected the localization of ß1/ß4 at microvilli tips. TGF-ß1-induced EMT was promoted by MARVELD1 silencing, while rebalance of integrin ß1/ß4 partly rescued the epithelial phenotype of MARVELD1-silenced cells. Mechanistically, we demonstrate that MARVELD1-mediated balance of integrin ß1 and ß4 regulates cell surface ultrastructure and EMT phenotype of NSCLC cells, suggesting MARVELD1 has a potential to be developed as a therapeutic target for NSCLC. © 2015 Wiley Periodicals, Inc.

MAPT rs242562 and GSK3B rs334558 are associated with Parkinson's Disease in central China.

BACKGROUND: Microtubule-associated protein tau (MAPT) is a neuronal protein involved in the pathogenesis of several neurodegenerative diseases including Parkinson's Disease (PD). Glycogen synthase kinase 3 beta (GSK3B) catalyzes phosphorylation in multiple sites of tau protein. However, whether or not there is any association between the GSK3B gene alteration, MAPT haplotype and PD remains unexplored in Chinese population, especially in central Chinese population. RESULTS: Here, we aimed at studying the effect of MAPT rs242562 and GSK3B rs334558 on the risk of PD by performing a case-control association study in central China. Our data showed that all PD patients and controls were of MAPT H1/H1 diplotype in our study, thus confirming that the distribution of the MAPT H1 haplotype is common in China. GG genotype of MAPT rs242562 serves protection effect on PD risk in central Chinese population, while genotype of GSK3B rs334558 showed no difference between PD patients and controls. CONCLUSIONS: We conclude that the MAPT rs242562 is associated with PD in central China in the background of MAPT H1/H1 diplotype. The GG genotype of rs242562 displays protection against PD in subgroup with GSK3B rs334558 T carrier.

Self-regulated reversal deformation and locomotion of structurally homogenous hydrogels subjected to constant light illumination.

Environmentally adaptive hydrogels that are capable of reconfiguration in response to external stimuli have shown great potential toward bioinspired actuation and soft robotics. Previous efforts have focused mainly on either the sophisticated design of heterogeneously structured hydrogels or the complex manipulation of external stimuli, and achieving self-regulated reversal shape deformation in homogenous hydrogels under a constant stimulus has been challenging. Here, we report the molecular design of structurally homogenous hydrogels containing simultaneously two spiropyrans that exhibit self-regulated transient deformation reversal when subjected to constant illumination. The deformation reversal mechanism originates from the molecular sequential descending-ascending charge variation of two coexisting spiropyrans upon irradiation, resulting in a macroscale volumetric contraction-expansion of the hydrogels. Hydrogel film actuators were developed to display complex temporary bidirectional shape transformations and self-regulated reversal rolling under constant illumination. Our work represents an innovative strategy for programming complex shape transformations of homogeneous hydrogels using a single constant stimulus.

Compound heterozygous ABCA12 variants identified in a Chinese patient with congenital ichthyosiform erythroderma: Advancing genotype-phenotype correlations and literature review.

BACKGROUND: Ichthyosis is a common keratotic skin disease with high clinical, etiological and genetic heterogeneity. There are four types of non-syndromic hereditary ichthyoses, among which autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of recessive Mendelian disorders. ARCI present with different phenotypes and ABCA12 pathogenic variants have been shown to cause complex ARCI phenotypes, including harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). METHODS: A sporadic male patient, clinically diagnosed with CIE, was enrolled in this study. Exome sequencing was combined with Sanger sequencing to confirm the diagnosis and identify the pathogenic variants. In silico predictions were made using multiple software programs, and the identified variants were interpreted using the ACMG guidelines. A review of all literature reported ABCA12 variants was performed to explore genotype-phenotype correlations. RESULTS: Compound heterozygous ABCA12 variants [c.5381+1G>A and c.5485G>C (p.Asp1829His)] (NM_173076) were identified. The two variants were not detected in the public database. c.5381+1G>A is predicted to affect ABCA12 mRNA splicing and Asp1829 is highly conserved among various species. In silico analysis suggested that these two variants were responsible for the phenotype of the patient. Genotype-phenotype correlation analysis showed that biallelic truncation variants and/or exon/amino acid deletions in ABCA12 are the most common causes of HI. Biallelic missense variants are most common in LI and CIE. CONCLUSIONS: The compound heterozygous ABCA12 variants caused the CIE phenotype observed in the patient. The spectrum of ABCA12 pathogenic variants were broaden. Genotype-phenotype correlation analysis provided detailed evidence which can be used in future prenatal diagnosis and can inform the need for genetic counselling for patients with ABCA12-related ARCIs.