Construction of Core-Shell MOF CSMnP with Enzyme-Like Activity for Chemotherapy and Chemodynamic Therapy.

Materials with enzyme-like activity have received a lot of attention in the field of tumor catalytic therapy. Here, biocompatible core-shell MOF CSMnP with two valence states of Mn ion, which could process chemodynamic therapy (CDT), was designed and synthesized. Besides, it could also promote a series of catalytic processes in the tumor microenvironment (TME). CSMnP catalyzed endogenous hydrogen peroxide (H2O2) to oxygen (O2) via catalase-like activity and then combined with the outer layer Mn(II)-PBC to convert O2 into superoxide radicals (•O2-), exhibiting oxidase-like activity. Besides, intracellular glutathione (GSH) could be effectively consumed through the glutathione oxidase-like activity of Mn3+. The occurrence of the cascade reactions effectively amplified the enzymatic production to enhance CDT. Furthermore, the therapeutic effect of CSMnP was improved through the loading of cationic drug DOX. The loading capacity was 11.10 wt %, which was 2.2 times that of Mn(III)-PBC (4.95 wt %), and the release of DOX showed a characteristic response. Therefore, the core-shell MOF with enzyme-like activity had a potential application for tumor combination therapy.

A Cu-Based Metal-Organic Framework Cu-Cip with Cuproptosis for Cancer Therapy and Inhibition of Cancer Cell Migration.

Microflora within cancer cells plays a pivotal role in promoting metastasis of cancer. However, contemporary anticancer research often overlooks the potential benefits of combining anticancer and antibacterial agents. Consequently, a metal-organic framework Cu-Cip with cuproptosis and antibacterial properties was synthesized for cancer therapy. To enhance the anticancer effect of the material, Mn2+ was loaded into Cu-Cip, yielding Mn@Cu-Cip. The fabricated material was characterized using single-crystal X-ray diffraction, PXRD, and FT-IR. By interacting with overexpressed H2O2 to produce ROS and accumulating Cu ions in cancer cells, MOFs exhibited excellent anticancer performance. Moreover, the material displayed the function of damaging Staphylococcus aureus and Escherichia coli, revealing the admirable antibacterial properties of the material. In addition, the antibacterial ability could inhibit tumor cell migration. The Cu-based MOF revealed promising applications in the field of tumor treatment.

Genome-wide association study for biomass accumulation traits in soybean.

Soybean is one of the most versatile crops for oil production, human diets, and feedstocks. The vegetative biomass of soybean is an important determinant of seed yield and is crucial for the forage usages. However, the genetic control of soybean biomass is not well explained. In this work, we used a soybean germplasm population, including 231 improved cultivars, 207 landraces, and 121 wild soybeans, to investigate the genetic basis of biomass accumulation of soybean plants at the V6 stage. We found that biomass-related traits, including NDW (nodule dry weight), RDW (root dry weight), SDW (shoot dry weight), and TDW (total dry weight), were domesticated during soybean evolution. In total, 10 loci, encompassing 47 putative candidate genes, were detected for all biomass-related traits by a genome-wide association study. Among these loci, seven domestication sweeps and six improvement sweeps were identified. Glyma.05G047900, a purple acid phosphatase, was a strong candidate gene to improve biomass for future soybean breeding. This study provided new insights into the genetic basis of biomass accumulation during soybean evolution. Supplementary information: The online version contains supplementary material available at 10.1007/s11032-023-01380-6.

Metal Hydrogen-Bonded Organic Framework as a pH Sensor for the Detection of Strong Acids.

pH detection is related to human beings' life closely. Herein, a porous metal hydrogen-bonded organic framework (MHOF) Co-CDI-CO32- was designed and synthesized, which could be utilized to detect the pH values of strong acids. The sensitivity of pH detection was in the range of pH 2.0-2.4 with an accuracy of 0.1, which mainly depended on the different degree of crystal surface damage. The MHOF Co-CDI-CO32- had potential applications with the advantages of low cost, easy storage, and great sensitivity for pH detection as a pH sensor.

Synthesis of novel 4,7-disubstituted quinoline derivatives as autophagy inducing agents via targeting stabilization of ATG5.

A series of new 4,7-disubstituted quinoline derivatives was designed, synthesized and evaluated for their antiproliferative activity. The results demonstrated that compounds 10c, 10g, 10i, 10j and 10k displayed potent antiproliferative activity with IC50 value of lower than 5.0 µM against human tumor cell lines, and N-(3-nitrophenyl)-7-((3,4,5-trimethoxybenzyl)oxy)quinoline - 4-amine 10k was found to be the most potent antiproliferative agent against HCT-116, HepG2, BCG-823, A549 and A2780 cell lines with IC50 values of 0.35, 1.98, 0.60, 0.39 and 0.67 µM, respectively. The antitumor efficacy of the representative compound 10k in mice was also evaluated, and the results showed that compound 10k effectively inhibited tumor growth and decreased tumor weight in animal models. Further investigation on mechanism of action indicated that compound 10k could inhibit colorectal cancer growth through inducing autophagy via excessively targeting stabilization of ATG5. Therefore, these quinoline derivatives are a new class of molecules that have the potential to be developed as new antitumor drugs.

Top-down controls on nutrient cycling and population dynamics in a model estuarine photoautotroph-heterotroph co-culture system.

Viral lysis and protistan grazing are thought to be the major processes leading to microbial mortality in aquatic environments and thus regulate community diversity and biogeochemical cycling characteristics. Here, we studied nutrient cycling and bacterial responses to cyanophage-mediated photoautotroph lysis and ciliate predation in a model Synechococcus-heterotroph co-culture system. Both viral lysis and Euplotes grazing facilitated the transformation of organic carbon from biomass to dissolved organic matter with convention efficiencies of 20%-26%. The accumulation of ammonium after the addition of phages and ciliates suggested the importance of recycled NH4+ occurred in the interactions between Synechococcus growth and heterotrophic bacterial metabolism of photosynthate. The slower efficiency of P mineralization compared to N (primarily ammonium) indicated that P-containing organic matter was primarily integrated into bacterial biomass rather than being remineralized into inorganic phosphate under C-rich conditions. In the cyanophage addition treatment, both Fluviicola and Alteromonas exhibited rapid positive responses to Synechococcus lysing, while Marivita exhibited an apparent negative response. Further, the addition of Euplotes altered the incubation system from a Synechococcus-driven phycosphere to a ciliate-remodelled zoosphere that primarily constituted grazing-resistant bacteria and Euplotes symbionts. Top-down controls increased co-culture system diversity and resulted in a preference for free-living lifestyles of dominant populations, which was accompanied by the transfer of matter and energy. Our results indicate top-down control was particularly important for organic matter redistribution and inorganic nutrient regeneration between photoautotrophs and heterotrophs, and altered bacterial lifestyles. This study consequently sheds light on marine biogeochemical cycling and the interaction networks within these dynamic ecosystems.

Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review.

BACKGROUND: Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients have been reported. CASE PRESENTATION: The child, a 13-year-old female, had delayed motor development since childhood, weakness of both lower extremities for 10 years, gait swinging, and a positive Gower sign. Her distal muscle strength of both lower extremities was grade IV. The electromyography showed myogenic damage and electromyographic changes. Her 11-year-old sister had a similar muscle weakness phenotype. Gene sequencing revealed that both sisters had SPEG compound heterozygous mutations, and the mutation sites were c.3715 + 4C > T and c.3588delC, which were derived from their parents. These variant sites have not been reported before. The muscle biopsy showed the nucleic (> 20% of fibers) were located in the center of the cell, the average diameter of type I myofibers was slightly smaller than that of type II myofibers, and the pathology of type I myofibers was dominant, which agreed with the pathological changes of centronuclear myopathy. CONCLUSIONS: The clinical phenotypes of CNM patients caused by mutations at different sites of the SPEG gene are also different. In this case, there was no cardiomyopathy. This study expanded the number of CNM cases and the mutation spectrum of the SPEG gene to provide references for prenatal diagnosis and genetic counseling.

A Y(III)-based Metal-Organic Framework as a Carrier in Chemodynamic Therapy.

A biocompatible Y(III)-based metal-organic framework [Y4(TATB)2]·(DMF)3.5·(H2O) (ZJU-16, H3TATB= 4,4',4''-(1,3,5-triazine-2,4,6-triyl) tribenzoic acid) was synthesized, and it was adopted to load Mn2+ for chemodynamic therapy. Meanwhile, ibuprofen sodium (IBUNa), an anti-inflammatory drug, was introduced to increase the amount of Mn2+ (about 5.66 wt %) due to the low loading capacity of Mn2+. Mn&IBUNa@ZJU-16 which was loaded by Mn2+ and IBUNa exhibited significant effects of chemodynamic therapy and excellent inhibition of the 4T1 tumor cell growth, implying its long-term prospects in chemodynamic therapy and its possibility in bimodal cancer therapy.

Thermal Stimuli-Triggered Drug Release from a Biocompatible Porous Metal-Organic Framework.

Drug delivery carriers with a high drug loading capacity and biocompatibility, especially for controlled drug release, are urgently needed due to the side effects and frequently dose in the traditional therapeutic method. In our work, a Zr-based metal-organic framework named ZJU-801, which is isoreticular with NU-801, has been designed and further demonstrated as an excellent drug delivery system (DDS) with a high drug loading of 41.7 %. Such a high drug loading capacity may be ascribed to the appropriate match of the size and the large pore volume of this kind of Zr MOF material. Compared with DS@NU-801, this DDS has successfully achieved on-command heating-activated drug release, which was probably attributed to the bulkier ligand, the better stability, and the intense π-π interaction between ZJU-801 and diclofenac sodium (DS) demonstrated comprehensively by SEM, powder X-ray diffraction (PXRD), FTIR and 13 C solid-state NMR spectroscopy as well as computer simulations. It is worth noting that premature drug release was avoided effectively without any complicated post-modifications. The low cytotoxicity and good biocompatibility of our DDS were certificated by the in vitro favorable results from an MTT assay, a WST-1 assay, and confocal microscopy imaging.

Geographic Impact on Genomic Divergence as Revealed by Comparison of Nine Citromicrobial Genomes.

Aerobic anoxygenic phototrophic bacteria (AAPB) are thought to be important players in oceanic carbon and energy cycling in the euphotic zone of the ocean. The genus Citromicrobium, widely found in oligotrophic oceans, is a member of marine alphaproteobacterial AAPB. Nine Citromicrobium strains isolated from the South China Sea, the Mediterranean Sea, or the tropical South Atlantic Ocean were found to harbor identical 16S rRNA sequences. The sequencing of their genomes revealed high synteny in major regions. Nine genetic islands (GIs) involved mainly in type IV secretion systems, flagellar biosynthesis, prophage, and integrative conjugative elements, were identified by a fine-scale comparative genomics analysis. These GIs played significant roles in genomic evolution and divergence. Interestingly, the coexistence of two different photosynthetic gene clusters (PGCs) was not only found in the analyzed genomes but also confirmed, for the first time, to our knowledge, in environmental samples. The prevalence of the coexistence of two different PGCs may suggest an adaptation mechanism for Citromicrobium members to survive in the oceans. Comparison of genomic characteristics (e.g., GIs, average nucleotide identity [ANI], single-nucleotide polymorphisms [SNPs], and phylogeny) revealed that strains within a marine region shared a similar evolutionary history that was distinct from that of strains isolated from other regions (South China Sea versus Mediterranean Sea). Geographic differences are partly responsible for driving the observed genomic divergences and allow microbes to evolve through local adaptation. Three Citromicrobium strains isolated from the Mediterranean Sea diverged millions of years ago from other strains and evolved into a novel group. IMPORTANCE: Aerobic anoxygenic phototrophic bacteria are a widespread functional group in the upper ocean, and their abundance could be up to 15% of the total heterotrophic bacteria. To date, a great number of studies display AAPB biogeographic distribution patterns in the ocean; however, little is understood about the geographic isolation impact on the genome divergence of marine AAPB. In this study, we compare nine Citromicrobium genomes of strains that have identical 16S rRNA sequences but different ocean origins. Our results reveal that strains isolated from the same marine region share a similar evolutionary history that is distinct from that of strains isolated from other regions. These Citromicrobium strains diverged millions of years ago. In addition, the coexistence of two different PGCs is prevalent in the analyzed genomes and in environmental samples.

A Large Capacity Cationic Metal-Organic Framework Nanocarrier for Physiological pH Responsive Drug Delivery.

A nanoscale cationic porous drug carrier ZJU-101 (ZJU = Zhejiang University), synthesized by the solvothermal method to get the crystal size of ∼300 nm, was used to load diclofenac sodium, an anionic drug. This positively charged host materials showed a large loading capacity of diclofenac sodium (∼0.546 g/g) through ion exchange and penetration procedures. The drug delivery in the inflamed tissues (pH = 5.4) exhibited a more effective release in comparison with that in the normal tissues (pH = 7.4), demonstrating a physiological pH responsive drug release. This discriminating drug release process was controlled by anion exchange between anions in phosphate buttered saline (PBS) and coordinated/free diclofenac anions.

Genome editing toward biofortified soybean with minimal trade-off between low phytic acid and yield.

Phytic acid (PA) in grain seeds reduces the bioavailability of nutrient elements in monogastric animals, and an important objective for crop seed biofortification is to decrease the seed PA content. Here, we employed CRISPR/Cas9 to generate a PA mutant population targeting PA biosynthesis and transport genes, including two multi-drug-resistant protein 5 (MRP5) and three inositol pentose-phosphate kinases (IPK1). We characterized a variety of lines containing mutations on multiple IPK and MRP5 genes. The seed PA was more significantly decreased in higher-order mutant lines with multiplex mutations. However, such mutants also exhibited poor agronomic performance. In the population, we identified  two lines carrying single mutations in ipk1b and ipk1c, respectively. These mutants exhibited moderately reduced PA content, and regular agronomic performance compared to the wild type. Our study indicates that moderately decreasing PA by targeting single GmIPK1 genes, rather than multiplex mutagenesis toward ultra-low PA, is an optimal strategy for low-PA soybean with a minimal trade-off in yield performance. Supplementary Information: The online version contains supplementary material available at 10.1007/s42994-024-00158-4.

The Association between NADPH Oxidase 2 (NOX2) and Drug Resistance in Cancer.

NADPH oxidase, as a major source of intracellular reactive oxygen species (ROS), assumes an important role in the immune response and oxidative stress response of the body. NADPH 9 oxidase 2 (NOX2) is the first and most representative member of the NADPH oxidase family, and its effects on the development of tumor cells are gaining more and more attention. Our previous study suggested that NCF4 polymorphism in p40phox, a key subunit of NOX2, affected the outcome of diffuse large B-cell lymphoma patients treated with rituximab. It hypothesized that NOX2-mediated ROS could enhance the cytotoxic effects of some anti-tumor drugs in favor of patients with tumors. Several reviews have summarized the role of NOX2 and its congeners-mediated ROS in anti-tumor therapy, but few studies focused on the relationship between the expression of NOX2 and anti-tumor drug resistance. In this article, we systematically introduced the NOX family, represented by NOX2, and a classification of the latest inhibitors and agonists of NOX2. It will help researchers to have a more rational and objective understanding of the dual role of NOX2 in tumor drug resistance and is expected to provide new ideas for oncology treatment and overcoming drug resistance in cancer.

Hexafluoro-2-propanol represses colorectal cancer proliferation by regulating transaminases.

Hexafluoro-2-propanol (HFIP) is a metabolite of sevoflurane used as part of the general anaesthesia technique. This study aims to investigate the effect of HFIP in colorectal cancer (CRC) and the regulation of associated genes. The differential expressed genes (DEGs) with HFIP treatment were analysed based on GEO dataset GSE56256. Due to the restricted number of studies performing RNA-Seq in CRC with HFIP treatment, we selected a CRC patient cohort (GSE23878) to obtain DEGs that were compared with DEGs from GSE56256. The DEGs with opposite expression patterns in these two GEO datasets indicate that the genes mediate the function of HFIP, thereby repress the progression of CRC. The DEGs from these two GEO datasets were analysed independently. We obtained 10 up-regulated genes in GSE23878 (CRC patient cohort) were also down-regulated in GSE56256 (HFIP cohort), therefore, these 10 genes may function as tumor suppressors in CRC and may be involved in the function of HFIP. STRING analysis demonstrated an interaction in GPT2, PSAT1 and SLC7A11. The high expression of GPT2, PSAT1 and SLC7A11 were confirmed in TCGA-COAD datasets and in CRC cells. HFIP treatment repressed GPT2, PSAT1 and SLC7A11, which resulted in an inhibited proliferation and colony formation ability of DLD-1 and HCT-116 cells. Silencing GPT2, PSAT1 and SLC7A11 showed similar effect compared to HFIP treatment. Overexpression of GPT2, PSAT1 and SLC7A11 abrogated the effect of HFIP. In conclusion, the sevoflurane metabolite HFIP plays a cancer suppression role depending on cell proliferation in colorectal cancer through the down-regulation of GPT2, PSAT1 and SLC7A11 expression.

Sevoflurane suppresses the malignant progression of breast cancer via the hsa_circ_0000129/miR-578/EPSTI1 axis.

BACKGROUND: Sevoflurane (Sev) is a commonly used volatile anesthetic that might suppress the process of breast cancer. Also, circular RNAs (circRNAs) have been reported to partake in the pathogenesis of breast cancer. Accordingly, this research was designed to investigate the mechanism of hsa_circ_0005962 on Sev-mediated breast cancer development. METHODS: Sev was applied to treat breast cancer cells. Cell proliferation ability, migration, invasion, and apoptosis were detected using Cell Counting Kit-8 (CCK-8), 5-ethynyl-2'-deoxyuridine (EdU), Transwell, and flow cytometry assay. Proliferating cell nuclear antigen (PCNA), Matrix metallopeptidase 9 (MMP9), B-cell lymphoma-2 (Bcl-2)-associated X protein (Bax), and Epithelial stromal interaction 1 (EPSTI1) were assessed using western blot assay. circ_0000129, microRNA-578 (miR-578), and EPSTI1 levels were determined using real-time quantitative polymerase chain reaction (RT-qPCR). Using bioinformatics software (Circinteractome and Targetscan), the binding between miR-578 and circ_0000129 or EPSTI1 were predicted, and proved using dual-luciferase reporter and RNA pull-down assay. The biological roles of circ_0000129 and Sevoflurane on tumor growth were analyzed using a xenograft tumor model in vivo. RESULTS: Sevoflurane blocked tumor cell proliferation, migration, invasion, and promoted apoptosis. Circ_0000129 and EPSTI1 expression were increased, and miR-578 was decreased in breast cancer cells. Also, they presented an opposite trend in Sev-treated tumor cells. Circ_0000129 upregulation might abolish Sev-mediated tumor progression in vitro. Mechanically, circ_0000129 can affect EPSTI1 expression by sponging miR-578. Sev might inhibit tumor growth by regulating circ_0000129 in vivo. CONCLUSION: Circ_0000129 relieved Sev-triggered suppression impacts on breast cancer development partly via the miR-578/EPSTI1 axis, which provides a new mechanism for studying mediated therapy of breast cancer treatment.

Electrical Resistance Performance of Cable Accessory Interface Considering Thermal Effects.

Power cables are widely used in various fields of power transmission, and cable accessories are the weakest link in power cable systems due to their complex structure and multi-layer insulation coordination issues. This paper investigates the changes in electrical properties of the silicone rubber/cross-linked polyethylene (SiR/XLPE) interface at high temperatures. The physicochemical properties of XLPE material under thermal effects with different times are characterized through FTIR, DSC, and SEM tests. Finally, the mechanism of the effects of the interface state on the electrical properties of the SiR/XLPE interface is analyzed. It is found that with the increase in temperature, the changes in electrical performance of the interface do not show a monotonic downward trend, while interestingly, they can be divided into three stages. Under the thermal effects for 40 d, the internal recrystallization of XLPE in the early stage improves the electrical properties of the interface. In the later stage of thermal effects, the amorphous region inside the material is severely damaged and the molecular chains are severely broken, resulting in a decrease in the electrical properties of the interface. The results above provide a theoretical basis for the interface design of cable accessories at high temperatures.

Effects of EEG burst suppression on cerebral oxygen metabolism and postoperative cognitive function in elderly surgical patients: A randomized clinical trial.

BACKGROUND: This randomized clinical trial determined the effects of electroencephalographic burst suppression on cerebral oxygen metabolism and postoperative cognitive function in elderly surgical patients. METHODS: The patients were placed into burst suppression (BS) and non-burst suppression (NBS) groups. All patients were under bispectral index monitoring of an etomidate target-controlled infusion for anesthesia induction and intraoperative combination sevoflurane and remifentanil for anesthesia maintenance. The cerebral oxygen extraction ratio (CERO2), jugular bulb venous saturation (SjvO2), and difference in arteriovenous oxygen (Da-jvO2) were measured at T0, T1, and T2. One day before surgery, and 1, 3, and 7 days after surgery, postoperative cognitive dysfunction was assessed using the mini-mental state examination (MMSE). RESULTS: Compared with T0, the Da-jvO2 and CERO2 values were decreased, and SjvO2 was increased in the 2 groups at T1 and T2 (P < .05). There was no statistical difference in the SjvO2, Da-jvO2, and CERO2 values between T1 and T2. Compared with the NBS group, the SjvO2 value increased, and the Da-jvO2 and CERO2 values decreased at T1 and T2 in the BS group (P < .05). The MMSE scores on the 1st and 3rd days postoperatively were significantly lower in the 2 groups compared to the preoperative MMSE scores (P < .05). The MMSE scores of the NBS group were higher than the BS group on the 1st and 3rd days postoperatively (P < .05). CONCLUSION: In elderly patients undergoing surgery, intraoperative BS significantly reduced cerebral oxygen metabolism, which temporarily affected postoperative neurocognitive function.

Differential fluorescent response to amino acids based on metal-organic framework Zn-PBC.

A novel metal-organic framework (MOF) Zn-PBC (H2PBC = pyridine-3,5-bis(phenyl-4-carboxylic acid)) was designed and synthesized via a solvothermal reaction with the H2PBC ligand, and produced a strong fluorescence. The material exhibited good stability and an ideal luminescent property in water. In addition, it was found that Zn-PBC displayed a different fluorescent response to different types of amino acids, and the mechanism was investigated. This research might give insight to the interaction between MOFs and amino acids, which would provide a strategy to fabricate MOF-based sensors for biomolecules in future.

Architecture Design and Catalytic Activity: Non-Noble Bimetallic CoFe/fe3 O4 Core-Shell Structures for CO2 Hydrogenation.

Non-noble metal catalysts now play a key role in promoting efficiently and economically catalytic reduction of CO2 into clean energy, which is an important strategy to ameliorate global warming and resource shortage issues. Here, a non-noble bimetallic catalyst of CoFe/Fe3 O4 nanoparticles is successfully designed with a core-shell structure that is well dispersed on the defect-rich carbon substrate for the hydrogenation of CO2 under mild conditions. The catalysts exhibit a high CO2 conversion activity with the rate of 30% and CO selectivity of 99%, and extremely robust stability without performance decay over 90 h in the reverse water gas shift reaction process. Notably, it is found that the reversible exsolution/dissolution of cobalt in the Fe3 O4 shell will lead to a dynamic and reversible deactivation/regeneration of the catalysts, accompanying by shell thickness breathing during the repeated cycles, via atomic structure study of the catalysts at different reaction stages. Combined with density functional theory calculations, the catalytic activity reversible regeneration mechanism is proposed. This work reveals the structure-property relationship for rational structure design of the advanced non-noble metallic catalyst materials with much improved performance.

Clinical and genetic analysis of a case of late onset carbamoyl phosphate synthase I deficiency caused by CPS1 mutation and literature review.

BACKGROUND: Carbamoyl phosphate synthetase I defect (CPS1D) is a rare disease with clinical case reports mainly in early neonates or adults, with few reports of first onset in late neonatal to childhood. We studied the clinical and genotypic characteristics of children with childhood onset CPS1D caused by two loci mutations (one of these is a rarely reported non-frame shift mutation) in the CPS1. CASE PRESENTATION: We present a rare case of adolescent-onset CPS1D that had been misdiagnosed due to atypical clinical features, and further investigations revealed severe hyperammonemia (287µmol/L; reference range 11.2 ~ 48.2umol/L). MRI of the brain showed diffuse white matter lesions. Blood genetic metabolic screening showed elevated blood alanine (757.06umol/L; reference range 148.8 ~ 739.74umol/L) and decreased blood citrulline (4.26umol/L; reference range 5.45 ~ 36.77umol/L). Urine metabolic screening showed normal whey acids and uracil. Whole-exome sequencing revealed compound heterozygous mutations in the CPS1, a missense mutation (c.1145 C > T) and an unreported de novo non-frame shift mutation (c.4080_c.4091delAGGCATCCTGAT), respectively, which provided a clinical diagnosis. CONCLUSION: A comprehensive description of the clinical and genetic features of this patient, who has a rare age of onset and a relatively atypical clinical presentation, will facilitate the early diagnosis and management of this type of late onset CPS1D and reduce misdiagnosis, thus helping to reduce mortality and improve prognosis. It also provides a preliminary understanding of the relationship between genotype and phenotype, based on a summary of previous studies, which reminds us that it may help to explore the pathogenesis of the disease and contribute to genetic counselling and prenatal diagnosis.