Search

Under the acidic conditions (pH 4.0), the addition of wheat oligopeptides (WOPs) (25~100 g/L) decreased the thermal stability of purple sweet potato anthocyanins (PSPAs), but enhanced its antioxidant capacity, which increased with the rise of the additive amount. When the addition was 100 g/L, the DPPH, ABTS free radical scavenging capacity and FRAP total antioxidant capacity of PSPAs solution after in vitro simulated digestion were increased by 1.5 times, 34 times and 34%, respectively. After storage at 37 ℃ and 45 ℃ for 7 d, the antioxidant capacity did not change significantly, and it had stronger biological activity and higher stability than those of PSPAs. UV and fluorescence spectra showed that PSPAs can affected the redshift of absorption peak and fluorescence quenching at specific wavelength of WOPs at experimental concentration, which proved the interaction between WOPs and PSPAs. It can be seen from the above that WOPs have the potential to be applied in the development of acidic PSPAs beverages.

Abstract Background TBX6, a member of the T-box gene family, encodes the transcription factor box 6 that is critical for somite segmentation in vertebrates. It is known that the compound heterozygosity of disruptive variants in trans with a common hypomorphic risk haplotype (T-C-A) in the TBX6 gene contribute to 10% of congenital scoliosis (CS) cases. The deletion of chromosome 17q12 is a rare cytogenetic abnormality, which often leads to renal cysts and diabetes mellitus. However, the affected individuals often exhibit clinical heterogeneity and incomplete penetrance. Methods We here present a Chinese fetus who was shown to have CS by ultrasound examination at 17 weeks of gestation. Trio whole-exome sequencing (WES) was performed to investigate the underlying genetic defects of the fetus. In vitro functional experiments, including western-blotting and luciferase transactivation assay, were performed to determine the pathogenicity of the novel variant of TBX6. Results WES revealed the fetus harbored a compound heterozygous variant of c.338_340del (p.Ile113del) and the common hypomorphic risk haplotype of the TBX6 gene. In vitro functional study showed the p.Ile113del variant had no impact on TBX6 expression, but almost led to complete loss of its transcriptional activity. In addition, we identified a 1.85 Mb deletion on 17q12 region in the fetus and the mother. Though there is currently no clinical phenotype associated with this copy number variation in the fetus, it can explain multiple renal cysts in the pregnant woman. Conclusions This study is the first to report a Chinese fetus with a single amino acid deletion variant and a T-C-A haplotype of TBX6. The clinical heterogeneity of 17q12 microdeletion poses significant challenges for prenatal genetic counseling. Our results once again suggest the complexity of prenatal genetic diagnosis.

IntroductionNitrogen (N) and phosphorus (P) enrichment due to anthropogenic activities can significantly affect soil N transformations in forest ecosystems. However, the effects of N and P additions on nitrification and denitrification processes in Metasequoia glyptostroboides plantations, and economically important forest type in China, remain poorly understood.MethodsThis study investigated the responses of soil nitrification and denitrification rates, as well as the abundances of nitrifiers and denitrifiers, to different levels of N and P additions in a 6-year nutrient addition experiment in a M. glyptostroboides plantation.ResultsStepwise multiple regression analysis was used to identify the main predictors of nitrification and denitrification rates. The results showed that moderate N addition (N2 treatment, 2.4 mol·m-2) stimulated nitrification rates and abundances of ammonia-oxidizing archaea (AOA) and bacteria (AOB), while excessive N and P additions inhibited denitrification rates and reduced the abundance of nirS-type denitrifiers. AOB abundance was the main predictor of nitrification rates under N additions, whereas microbial biomass carbon and nirS gene abundance were the key factors controlling denitrification rates. Under P additions, tree growth parameters (diameter at breast height and crown base height) and AOB abundance were the primary predictors of nitrification and denitrification rates.DiscussionOur study reveals complex interactions among nutrient inputs, plant growth, soil properties, and microbial communities in regulating soil N transformations in plantation forests. This study also offers valuable insights for formulating effective nutrient management strategies to enhance the growth and health of M. glyptostroboides plantations under scenarios of increasing elevated nutrient deposition.

The isolation and identification of plant growth-promoting endophytic bacteria (PGPEB) from Achyranthes bidentata roots have profound theoretical and practical implications in ecological agriculture, particularly as bio-inoculants to address challenges associated with continuous monoculture. Our research revealed a significant increase in the abundance of these beneficial bacteria in A. bidentata rhizosphere soil under prolonged monoculture conditions, as shown by bioinformatics analysis. Subsequently, we isolated 563 strains of endophytic bacteria from A. bidentata roots. Functional characterization highlighted diverse plant growth-promoting traits among these bacteria, including the secretion of indole-3-acetic acid (IAA) ranging from 68.01 to 73.25 mg/L, phosphorus and potassium solubilization capacities, and antagonistic activity against pathogenic fungi (21.54%−50.81%). Through 16S rDNA sequencing, we identified nine strains exhibiting biocontrol and growth-promoting potential. Introduction of a synthetic microbial consortium (SMC) in pot experiments significantly increased root biomass by 48.19% in A. bidentata and 27.01% in replanted Rehmannia glutinosa. These findings provide innovative insights and strategies for addressing continuous cropping challenges, highlighting the practical promise of PGPEB from A. bidentata in ecological agriculture to overcome replanting obstacles for non-host plants like R. glutinosa, thereby promoting robust growth in medicinal plants.

The spatial pattern of leaf stoichiometry is critical in predicting plant palatability and ecosystem productivity and nutrient cycling rates and thus is a major focus of community ecological research. Coastal wetlands as vital blue carbon ecosystems, with high possibility to be vulnerable to plant invasion, studies focused on stoichiometry and its pattern are important to unveil the elements cycling process. However, previous studies have mainly focused on stoichiometry in terrestrial ecosystems, there are few studies conducted on coastal wetland ecosystems, especially the studies that compare leaf stoichiometry between native and non-native plants in coastal wetlands. In this study, we compared the latitudinal patterns of leaf nutrient contents and their stoichiometric ratios between native and non-native plant species across coastal wetland ecosystems and investigated whether leaf stoichiometric patterns were driven by climatic factors. We used a compiled global data set of 954 records to conduct a systematic meta-analysis. The results showed that there were significant differences in latitudinal patterns of leaf carbon (C) and nitrogen (N) contents and C:N ratio between native and non-native species, as well as significant differences in leaf C, N, and phosphorus (P) contents. For native species, we found significant latitudinal patterns in leaf C, N, and P contents and C:N and C:P ratios, whereas for non-native species, we found significant latitudinal patterns in leaf N content and C:P and N:P ratios. Mean annual temperature of the data collection site was a significant predictor of leaf stoichiometry of native plants but only of leaf N content and C:P ratio of non-native plants. Thus, we demonstrated spatial heterogeneity in leaf stoichiometries between native and non-native plants in coastal wetlands, indicating that such differences should be emphasized in future biogeochemical models and plant-herbivore interaction studies owing to the important role of wetland plants in global C, N, and P cycles. Our findings increase understanding of plant-related nutrient and elements cycling in coastal wetlands, as well as improve predictions of plant growth rates and vegetation productivity across large scales under plant invasion scenarios.

Abstract Background Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China and its association with CFC syndrome gene variants. Results Twenty Chinese CFC patients, aged 0.6–9.5 years old, were included in this study and their clinical phenotypic spectrum was compared with that of 186 patients with CFC from non-Chinese ethnicities. All 20 Chinese patients with CFC carried de novo heterozygous BRAF, MAP2K1, and MAP2K2 variants. Two novel variants were detected and consistently predicted to be deleterious using bioinformatic tools. The clinical features of CFC in the Chinese patients included hypertrophic cardiomyopathy (2/20, 10%), pulmonary valve stenosis (2/20, 10%), curly or sparse hair (7/20, 35%), epilepsy (1/20, 5%), and hypotonia (10/20, 50%); these features were less frequently observed in Chinese patients than non-Chinese patients (p

Based on the method of cognitive mapping, this paper systematically organizes the evolution of Yuzhong dialect vocabulary in different historical stages, revealing its important role in the evolution of the Chinese language. The global statistical information of the corpus is utilized to train the word vectors, which are input into the recurrent neural network as feature vectors to enhance the model’s ability to learn long-distance information. Perplexity is defined as a metric for evaluating the performance of a language model, the inverse of the geometric mean probability assigned to each word by the model given a known sequence of words in the test set. Subsequently, based on this metric, a corresponding model was built to comprehensively evaluate the performance of the language model, which provides insights into the functions and expressions of Yuzhong dialect words in communication. Among them, the number of unsubstituted nouns, such as weather, is 41, and the color of the sky is 67, showing the rhyme and stability of Yuzhong dialect vocabulary in specific domains.

Summary: Background: Pathogenic variants in the centrosome protein (CEP) family have been implicated in primary microcephaly, Seckel syndrome, and classical ciliopathies. However, most CEP genes remain unlinked to specific Mendelian genetic diseases in humans. We sought to explore the roles of CEP295 in human pathology. Methods: Whole-exome sequencing was performed to screen for pathogenic variants in patients with severe microcephaly. Patient-derived fibroblasts and CEP295-depleted U2OS and RPE1 cells were used to clarify the underlying pathomechanisms, including centriole/centrosome development, cell cycle and proliferation changes, and ciliogenesis. Complementary experiments using CEP295 mRNA were performed to determine the pathogenicity of the identified missense variant. Findings: Here, we report bi-allelic variants of CEP295 in four children from two unrelated families, characterized by severe primary microcephaly, short stature, developmental delay, intellectual disability, facial deformities, and abnormalities of fingers and toes, suggesting a Seckel-like syndrome. Mechanistically, depletion of CEP295 resulted in a decrease in the numbers of centrioles and centrosomes and triggered p53-dependent G1 cell cycle arrest. Moreover, loss of CEP295 causes extensive primary ciliary defects in both patient-derived fibroblasts and RPE1 cells. The results from complementary experiments revealed that the wild-type CEP295, but not the mutant protein, can correct the developmental defects of the centrosome/centriole and cilia in the patient-derived skin fibroblasts. Interpretation: This study reports CEP295 as a causative gene of the syndromic microcephaly phenotype in humans. Our study also demonstrates that defects in CEP295 result in primary ciliary defects. Funding: A full list of funding bodies that contributed to this study can be found under “Acknowledgments.”

In order to improve the gel properties of black rice, mung bean starch, potato starch and corn starch were mixed with black rice flour. The pasting properties and texture properties of compounded system, and the molecular structure characteristics of the complex system were tested, and further analyzed by low-field NMR analyzer, Fourier transform infrared spectroscopy and X-ray diffraction. The results showed that with the increase of starch concentration, the pasting viscosity of the starch-black rice flour complex system increased significantly, while the pasting time and temperature were reduced. Mung bean starch and potato starch significantly enhanced the water holding capacity and swelling capacity of the compound system, while potato starch and corn starch significantly reduced the solubility. All three starches promoted the formation of the gel network structure and improved the texture properties of the gel, including the hardness, elasticity, chewiness and resilience of the gel. In addition, the three starches enhanced the hydrogen bond interaction between the starch chains of the compound system, reduced the water holding capacity of the gel, and enhanced the molecular short-range structure order and relative crystallinity of the system. The above research showed that three kinds of starch improved the quality of black rice gel, and mung bean starch had the best improvement effect.

The differences in chemical components, nutritional value, volatile organic compounds, antioxidant activity and α-glucosidase inhibiting capacity in vitro in coconut waters with different maturities (8, 10, and 12 months after pollination and germination height below 10 cm were named CW-8, CW-10, CW-2, and MCW, respectively) from the tall coconut variety were compared and analyzed. Results showed that as the maturity increased, the ash and reducing sugar in coconut water gradually decreased, while the protein content and fatty acids continued to increase. Potassium, phosphorus, and sodium in four coconut waters showed a trend of first increasing and then decreasing, and CW-12 had the highest content of 2133.85 mg/kg, 239.74 mg/kg, and 310.75 mg/kg, respectively. The volatile organic compounds (VOCs) present in higher amounts are alcohols and esters in coconut waters, among which 2-methylbutyl acetate, ethyl acetate monomer, and 2-methyl-1-propanol dimer were the characteristic volatile substances that distinguish MCW from the other three coconut waters. MCW has the best DPPH-scavenging and ferrous-ion-chelating ability (87.39% and 7.65%), while CW-8 had the highest hydroxyl and ABTS radicals scavenging rate (97.31% and 83.48%) and α-glucosidase inhibitory rate (81.36%). These results can provide support for the differential and high-value utilization of coconut water with different maturities.

Microplastics (MPs) have been identified as emerging contaminants and have received global attention because they pose a severe threat to wildlife and the human food chain. In recent years, many studies related to the sources, distribution, and effects of MPs in marine, terrestrial, and wastewater environmental compartments have been reported, whereas a comprehensive overview of the presence and characteristics of MPs in unique coastal wetland ecosystems is still lacking. Therefore, this review summarizes the accumulation and sources of MPs in coastal wetlands, as well as their effects on these ecosystems, based on environmental monitoring and laboratory results published in the literature. First, the accumulation of MPs in coastal wetlands is briefly reviewed. Second, the sources of MPs in coastal wetlands are discussed. Third, the ecological effects of MPs on coastal wetlands are summarized. Finally, this review presents gaps in the MPs research and provides an outlook for future research in this field.

The Al2O3-based slags are playing important roles in the preparation of Cu–Cr alloy through self-propagating high-temperature synthesis (SHS) – Metallurgy method. However, the current research on Al2O3-based slag is mainly concentrated on steel metallurgical slag and electroslag remelting slag, and the research on aluminum thermal reduction slag with high content of Al2O3 is still insufficient. Therefore, systematic studies of the physical properties of slag with high aluminum content were carried out in the present work, and the influence of CaF2, CaO, MgO, SiO2, and Na3AlF6 on viscosities, liquidus temperatures, densities, and surface tensions of high Al2O3 content slags was measured and analyzed. The results indicated that CaO and CaF2 have positive effects on the physical properties of Al2O3-based slags, MgO has positive effects when its content is not over 3%, and SiO2 and Na3AlF6 have negative impacts. CaO, CaF2, and MgO (not over 3%) could be used as additives to improve the metallurgical performance of Al2O3-based slags in aluminothermic reduction–slag refining method.

IntroductionGrazing prohibition is an effective management practice to restore salt marsh functioning. However, the effects of grazing exclusion on denitrifying microbial communities and their controlling factors in salt marshes remain unclear.MethodsIn this study, we surveyed soil physicochemical properties and above- and below-ground biomass and using quantitative polymerase chain reaction and Illumina MiSeq high-throughput sequencing technology to determine the relative abundance, composition, and diversity of nitrite reductase nirS- and nirK-type denitrifying bacterial communities associated with grazing prohibition treatments and elevations.ResultsThe abundance of nirS-type denitrifiers increased with grazing prohibition time, whereas the abundance of nirK-type denitrifiers remained unaltered. Moreover, nirS-type denitrifiers were more abundant and diverse than nirK-type denitrifiers in all treatments. Grazing prohibition significantly altered the operational taxonomic unit richness, abundance-based coverage estimator, and Chao1 indices of the nirS-type denitrifying bacterial communities, whereas it only minimally affected the structure of the nirK-type denitrifying bacterial community.DiscussionThe results imply that the nirS community, rather than nirK, should be the first candidate for use as an indicator in the process of salt marsh restoration after grazing prohibition. Substances of concern, total nitrogen, and salinity were the key environmental factors affecting the abundance and community composition of nirS and nirK denitrifiers. The findings of this study provide novel insights into the influence of the length of grazing prohibition and elevation on nirS- and nirK-type denitrifying bacterial community composition in salt marshes.

Environmental heterogeneity in cold seeps is usually reflected by different faunal aggregates. The sediment microbiome, especially the geochemical cycling-associated communities, sustains the ecosystem through chemosynthesis. To date, few studies have paid attention to the structuring and functioning of geochemical cycling-associated communities relating to environmental heterogeneity in different faunal aggregates of cold seeps. In this study, we profiled the microbial community of four faunal aggregates in the Haima cold seep, South China Sea. Through a combination of geochemical and meta-omics approaches, we have found that geochemical variables, such as sulfate and calcium, exhibited a significant variation between different aggregates, indicating changes in the methane flux. Anaerobic methanotrophic archaea (ANME), sulfate-reducing, and sulfide-oxidizing bacteria (SRB and SOB) dominated the microbial community but varied in composition among the four aggregates. The diversity of archaea and bacteria exhibited a strong correlation between sulfate, calcium, and silicate. Interspecies co-exclusion inferred by molecular ecological network analysis increased from non-seep to clam aggregates and peaked at the mussel aggregate. The networked geochemical cycling-associated species showed an obvious aggregate-specific distribution pattern. Notably, hydrocarbon oxidation and sulfate reduction by ANME and SRB produced carbonate and sulfide, driving the alkalization of the sediment environment, which may impact the microbial communities. Collectively, these results highlighted that geofluid and microbial metabolism together resulted in environmental heterogeneity, which shaped the C and S cycling-associated microbial community.

Using integral field spectroscopy (IFS) from MaNGA, we study the resolved microstructures in a shocked region in the Criss-cross Nebula (CCN), with an unprecedentedly high resolution of ≲1000 au. We measure surface brightness maps for 34 emission lines, which can be broadly divided into three categories: (1) the [O iii ] λ 5007-like group including seven high-ionization lines and two [O ii ] auroral lines that uniformly present a remarkable lane structure, (2) the H α λ 6563-like group, including 23 low-ionization or recombination lines that present a clump-like structure, and (3) [O ii ] λ 3726 and [O ii ] λ 3729 showing high densities at both the [O iii ] λ 5007 lane and the H α clump. We use these measurements to constrain resolved shock models implemented in MAPPINGS V . We find our data can be reasonably well fitted by a model that includes a plane-parallel shock with a velocity of 133 ± 5 km s ^−1 , plus an isotropic two-dimensional Gaussian component, which is likely another clump of gas ionized by photons from the shocked region, and a constant background. We compare the electron density and temperature profiles as predicted by our model with those calculated using observed emission-line ratios. We find different line ratios to provide inconsistent temperature maps, and the discrepancies can be attributed to observational effects caused by limited spatial resolution and projection of the shock geometry, as well as contamination of the additional Gaussian component. Implications on shock properties and perspectives on future IFS-based studies of the CCN are discussed.

We study the size–mass relation (SMR) and recent star formation history (SFH) of post-starburst (PSB) galaxies in the local Universe using spatially resolved spectroscopy from the final data release of MaNGA. Our sample includes 489 PSB galaxies: 94 cPSB galaxies with central PSB regions, 85 rPSB galaxies with ringlike PSB regions, and 310 iPSB galaxies with irregular PSB regions. When compared to control galaxies of similar star formation rate, redshift, and mass, a similar SMR is found for all types of PSB samples except the cPSB galaxies, which have smaller sizes at intermediate masses ( $9.5\lesssim {\mathrm{log}}_{10}({M}_{* }/{M}_{\odot })\lesssim 10.5$ ). The iPSB galaxies in the star-forming sequence (iPSB-SF) show no/weak gradients in D _n (4000), EW(H δ _A ), and EW(H α ), consistent with the global star-forming status of this type of galaxy, while the quiescent iPSB (iPSB-Q) sample shows negative gradients in D _n (4000) and positive gradients in EW(H δ _A ), indicating older stellar populations in the inner regions. Both the cPSB and rPSB samples show positive gradients in D _n (4000) and negative gradients in EW(H δ _A ), indicating younger stellar populations in the inner regions. These results imply that the four types of PSB galaxies can be broadly divided into two distinct categories in terms of evolutionary pathway: (1) iPSB-SF and iPSB-Q, which have SMRs and SFHs similar to control galaxies, preferring an inside-out quenching process, and (2) rPSB and cPSB, which appear to be different stages of the same event and likely to follow the outside-in quenching process driven by disruption events such as mergers that result in a more compact structure as quenching proceeds.

We study the neutron star core-crust transition density ρt with the inclusion of the vacuum polarization in the dielectric function in the nonlinear relativistic Hartree approach (RHAn). It is found that the strong correlation between the ρt and the scalar meson mass mσ strikingly overwhelms the uncertainty of the nuclear equation of state in the RHAn models, in contrast to the usual awareness that ρt is predominantly sensitive to the isovector nuclear potential and symmetry energy. The accurate extraction of ρt through the future gravitational wave measurements can thus provide a strong constraint on the longstanding uncertainty of mσ, which is of significance to better infer the vacuum property. As an astrophysical implication, it suggests that the correlation between ρt and mσ is very favorable to reconcile the difficulty in reproducing the large crustal moment of inertia for the pulsar glitches with the well constrained symmetry energy.

BackgroundWFS1-related disorders involve a wide range of clinical phenotypes, including diabetes mellitus and neurodegeneration. Inheritance patterns of pathogenic variants of this gene can be autosomal recessive or dominant, and differences in penetrance present challenges for accurate diagnosis and genetic counselling.MethodsThree probands and one elder brother from three families were systematically evaluated and the clinical data of other family members were collected from the medical history. Whole-exome sequencing was performed on the probands, and RNA sequencing was performed on four patients, their parents with WFS1 variants, and four gender- and age-matched children with type 1 diabetes mellitus.ResultsThere were six patients with diabetes. Dilated cardiomyopathy, a rare manifestation of WFS1-related disease, was identified in one patient, along with MRI findings of brain atrophy at age 7 years and 3 months, the earliest age of discovery we know of. Whole-exome sequencing revealed five pathogenic or likely pathogenic variants in the WFS1 gene, including c.1348dupC (p.His450Profs*93), c.1381A>C (p.Thr461pro), c.1329C>G (p.Ser443Arg), c.2081delA (p.Glu694Glyfs*16), c.1350-1356delinsGCA (p.His450Glnfs*26), of which 3 variants (c.1348dupC, c.2081delA, c.1350-1356delinsGCA) were novel that have not been previously reported. The differentially expressed genes were mainly associated with immune-related pathways according to the Gene Ontology enrichment analysis of the RNA sequencing data. The exon 1 region of HLA-DRB1 in two patients was not transcribed, while the transcription of the region in their parents was normal.ConclusionThis study emphasizes the clinical and genetic heterogeneity in patients, even in the same family with WFS1 variants. MRI evaluation of the brain should be considered when WFS1-related disorder is first diagnosed.

Abstract Background The GNAS gene on chromosome 20q13.3, encodes the alpha-subunit of the stimulatory G protein, which is expressed in most tissues and regulated through reciprocal genomic imprinting. Disorders of GNAS inactivation produce several different clinical phenotypes including pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), progressive osseous heteroplasia (POH), and osteoma cutis (OC). The clinical and biochemical characteristics overlap of PHP subtypes and other related disorders presents challenges for differential diagnosis. Methods We enrolled a total of 11 Chinese children with PHP in our study and analyzed their clinical characteristics, laboratory results, and genetic mutations. Results Among these 11 patients, nine of them (9/11) presented with resistance to parathyroid hormone (PTH); and nine (9/11) presented with an Albright′s hereditary osteodystrophy (AHO) phenotype. GNAS abnormalities were detected in all 11 patients, including nine cases with GNAS gene variations and two cases with GNAS methylation defects. These GNAS variations included an intronic mutation (c.212 + 3_212 + 6delAAGT), three missense mutations (c.314C > T, c.308 T > C, c.1123G > T), two deletion mutations (c.565_568delGACT*2, c.74delA), and two splicing mutations (c.721 + 1G > A, c.432 + 1G > A). Three of these mutations, namely, c.314C > T, c.1123G > T, and c.721 + 1G > A, were found to be novel. This data was then used to assign a GNAS subtype to each of these patients with six cases diagnosed as PHP1a, two cases as PHP1b, one as PPHP, and two as POH. Conclusions Evaluating patients with PTH resistance and AHO phenotype improved the genetic diagnosis of GNAS mutations significantly. In addition, our results suggest that when GNAS gene sequencing is negative, GNAS methylation study should be performed. Early genetic detection is required for the differential diagnosis of GNAS disorders and is critical to the clinician’s ability to distinguish between heterotopic ossification in the POH and AHO phenotype.

In recent years, “Jin Gao Yu” that has been traded as a kind of jade has appeared in areas of the Luonan and Shangnan counties, Shangluo City, Shaanxi Province, attracting the attention of scholars and consumers for its delicate texture and warm color. In this study, infrared spectroscopy, Raman spectroscopy, X-ray diffraction analysis, and electron microprobe analysis were used to conduct a systematic gemmological test and an analysis of “Jin Gao Yu”. The results show that “Jin Gao Yu” is a compact mineral aggregate dominated by dolomite, which contains quartz mineral inclusions. The color of “Jin Gao Yu” is grayish-white to earthy-yellow, the refractive index is about 1.54, and the relative density is about 2.86. Its crystal structure is basically the same as that of dolomite, both of which are trigonal systems with granular crystalloblastic textures. It has good crystallinity. The recrystallization phenomenon can be seen under a polarizing microscope. This study determined the species of “Jin Gao Yu”, improved its gemological basic data, provided a theoretical basis for the identification of “Jin Gao Yu” in the future, and, also, provided a new direction for the use of dolomite.

Abstract Background Pathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism condition characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis.The main clinical differences between SOFT and vPOC1A syndrome include dyslipidemia with insulin resistance and acanthosis nigricans. To our knowledge, this is the first report of a SOFT syndrome patient diagnosed with a homozygous splicing variant, which could help to extend our understanding of the genotypic and phenotypic information of the disease. Case presentation We reported a seven-year-old boy with SOFT syndrome. The patient presented symmetrical short stature and facial features, including prominent forehead, inverted triangular face, epicanthal fold, small teeth and enlarged ears. Laboratory tests displayed mild insulin resistance. Whole-exome sequencing (WES) led to the identification of a homozygous splicing variant (c.981+1G>A) in POC1A gene of the patient, which was inherited from his heterozygous parents confirmed by Sanger sequencing. Further transcriptional experiments of the splicing variant revealed aberrant percentage of exon 9 skipping transcripts. Conclusions This is the firstly reported case of a SOFT syndrome patient with a novel homozygous splicing variant and detailed delineation of the aberrant transcript in proband and carrier of the variant in Chinese. Our study enriched mutational spectrum of POC1A which could help in further genetic diagnosis and counselling of SOFT syndrome patients.

Enzymes can efficiently and specifically accelerate biochemical reactions in biological processes. In the field of tea deep processing, the application of exogenous enzymes can be greener and more efficient in the extraction, separation, preparation, or biosynthesis of tea functional components to realize the high value utilization of tea resources. In the present review, the application of enzymes and enzyme engineering technology in tea deep processing were discussed from the following four aspects, i.e., enzyme-assisted extraction, enzyme-assisted synthesis, bioenzyme-modified tea extracts and immobilized enzyme technology. Moreover, the problems and outlooks the research directions of enzymes and the technology in the field of tea were also analyzed.

As a common reclamation practice in global estuaries and coasts, conversion of natural wetlands to aquaculture ponds for food demand had significant effects on nitrogen (N) cycling processes. However, the response of sedimemt N fixation process on this conversion remains poorly understood. Here, slury incubation experiment combined with 15N isotope tracing method and molecular analysis technique were used to investigate the influences of conversion of natural marshland to shrimp ponds on sediemt N fixation process. The results showed that conversion of natural marshland to shrimp ponds significantly promoted sediment N fixation rate. The increasing of sediment N fixation rate may be mainly attributed to the change of sediment EC, TOC and Fe2+/Fe3+ rather than the change of N fixation gene abundance. In addition, there was no obvious difference in sediment N fixation rate between 5-year-old shrimp ponds and 18-year-old shrimp ponds, which may be ascribed to the increasing inhibiting effect of inorganic N concentration with reclamation time. Overall, our findings highlighted that conversion of natural wetlands to aquaculture ponds can affect the N budgets in estuarine and coastal regions by altering the sediment N fixation process.

Numerous methane seepage events occurred in periods of low or falling sea level since 330 ka BP, which is attributed to decrease in hydrostatic pressure and subsequent gas hydrate dissociation in the northern South China Sea (SCS). The seepage intensity likely decrease due to gas hydrate stabilization once there was a relatively high-stand sea level. However, there are few geochemical records of decline in upward methane flux in the northern South China Sea. Here, combing porewater and solid-phase analyses, the geochemical cycling of barium was investigated in two piston cores from sites HD109 and HD319 within two areas with inferred gas hydrate occurrence in the Taixinan Basin of the northern SCS, in order to track the net decrease in the upward methane flux and to estimate the total duration time of these events in the studied sediments. The results indicate that there are four intervals with barium enrichments in the sediment section overlying the occurrent sulfate-methane transition zone (SMTZ) at both cores, suggesting the SMTZs have downward migrated through time. Based on the excess barium contents and the diffusive Ba2+ fluxes above the current SMTZ, we estimate the total time for barium accumulation at both cores is about ten thousand years. It is suggested that some methane seepage events temporarily enhance the upward flux of methane, inducing anaerobic oxidation of methane and associated SMTZ close to the sediment surface before the Holocene. After the most intensive seepage event ceased in the post-glacial period, the upward methane flux decreased and the SMTZ migrated downward gradually, preserving enrichments of diagenetic barite. Overall, these new data confirm the episodic decrease in upward methane flux recorded by authigenic barite after the last glacial maximum, which is likely related to the stabilization of underlying gas hydrate reservoir. This study may fill in the gap of the geochemical records of the variations in methane seepage and gas hydrate system during the post-glacial period in the northern SCS.

Agate attracts the attention of gem mineralogists because of its variable colors. The color of agate is closely related to its naming and classification, so it is necessary to study the color and mineral origin of agate. In this paper, the mineralogical characteristics and color origin of red, yellow and green Moqi agates from Inner Mongolia were systematically studied by means of Fourier transform infrared spectrometer, Raman spectrometer, X-ray powder diffractometer, electron probe microanalyzer and ultraviolet–visible spectrophotometer. It is found that the color of Moqi agate is related to the minerals and trace elements contained in it, and is associated with the electron transition or charge transfer of Fe ions in the contained minerals. Green agate has the highest Fe content, and its color is caused by celadonite inclusions. The red and yellow color in Moqi agate is mainly caused by hematite and goethite, while red agate contains more Fe than yellow agate. Raman spectroscopy and X-ray diffraction analysis show that the content of moganite in Moqi agate is 0–30%. It is calculated that the crystallinity of Moqi agate is 1.5–3.5. This work provides a theoretical basis for future research on the identification of Moqi agate.

SOX11 is a transcription factor belonging to the sex determining region Y-related high-mobility group box family that plays a vital role in early embryogenesis and neurogenesis. De novo variants in SOX11 have been initially reported to cause a rare neurodevelopmental disorder, mainly referred to Coffin-siris syndrome 9 (CSS9, OMIM# 615866) which is characterized with growth deficiency, intellectual disability (ID), microcephaly, coarse facies, and hypoplastic nails of the fifth fingers and/or toes. A recent large-scale cohort study suggests that SOX11 variation would result in a clinically and molecularly distinct disease from CSS. Here, we describe three unrelated Chinese cases with variable phenotype, mainly involving developmental delay, ID, short statute, microcephaly, facial deformities (i.e., prominent forehead, arched eye brow, flat nasal bridge, broad nose and short philtrum), and cryptorchidism. Whole-exome sequencing (WES) revealed three novel heterozygous variants in the SOX11 gene, including two missense variants of c.337T>C (p.Y113H) and c.425C>G (p.A142G), and one nonsense variant of c.820A>T (p. K142*). Luciferase reporting assay shows that the two missense variants impair the transcriptional activity of the SOX11 target gene GDF5. Additionally, WES uncovered a 4,300 kb deletion involving the region of 1q24.2-q25.1 (hg19,chr1:169,433,149-173,827,682) in patient 1, which also contributes to the condition of the patient. In summary, this is the first report of Chinese cases with de novo variants of SOX11. Our study partially supports the previous observation that the phenotype caused by SOX11 variants somewhat differs from classical CSS.

Grazing prohibition has been used for some conservation purposes in salt marshes. However, the impact of this measure on microbe-mediated key nitrogen removal processes remains poorly understood. Therefore, this study assessed the impact of grazing prohibition on potential rates of nitrification and denitrification under short- and long-term grazing prohibition in high and middle elevation of the Dongtan salt marsh on Chongming Island, China. Compared with short-term grazing prohibition, we found that long-term grazing prohibition significantly increased nitrification and denitrification (except for nitrification in the high marsh), which indicates that the nitrogen removal ability of the salt marsh was improved along with the grazing prohibition time. Furthermore, we found that nitrification and denitrification in the high marsh were largely affected by NH4+ and soil moisture, respectively. Nitrification and denitrification in the middle marsh were mainly controlled by soil organic carbon (SOC) and nirS gene abundances, respectively. Our results indicate that the implementation of scientific and reasonable grazing prohibition policies in salt marshes has great potential to restore their ecosystem functions, maintain their ecosystem balance and realize their sustainable development.

Abstract Background Mutations in CNKSR2 have been described in patients with neurodevelopmental disorders characterized by childhood epilepsy, language deficits, and attention problems. The encoded protein plays an important role in synaptic function. Case presentation Whole-exome sequencing was applied to detect pathogenic variants in a patient with clinical symptoms of psychomotor development, attention deficit, poor logical thinking ability, and an introverted personality, but without epilepsy or any significant electroencephalogram changes. Genetic study revealed a splicing mutation (c.1904 + 1G > A) and RT-PCR revealed aberrant splicing of exon 16, leading to a reading-frame shift and a truncated protein in the PH domain. Conclusions This is the first report of a splicing variant of CNKSR2, and the unique clinical features of this pedigree will help extend our understanding of the genetic and phenotypic spectra of CNKSR2-related disorders.

Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. Case presentation The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). Conclusions This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome.

We develop a novel approach to measure the dust attenuation properties of galaxies, including the dust opacity, the shape of the attenuation curve, and the strength of the 2175 Å absorption feature. From an observed spectrum, the method uses a model-independent approach to derive a relative attenuation curve with an absolute amplitude calibrated using NIR photometry. The dust-corrected spectrum is fitted with stellar population models to derive the dust-free model spectrum, which is compared with the observed SED/spectrum from NUV to NIR to determine the dust attenuation properties. We apply this method to investigate dust attenuation on kiloparsec scales using a sample of 134 galaxies with integral field spectroscopy from MaNGA, NIR imaging from 2MASS, and NUV imaging from Swift/UVOT. We find that the attenuation curve slope and the 2175 Å bump in both the optical and NUV span a wide range at kiloparsec scales. The slope is shallower at higher optical opacity, regardless of the specific star formation rate (sSFR), the minor-to-major axis ratio ( b / a ) of the galaxies, and the location of spaxels within individual galaxies. The 2175 Å bump presents a strong negative correlation with the sSFR, while the correlations with the optical opacity, b / a , and the locations within individual galaxies are all weak. All of these trends appear to be independent of the stellar mass of the galaxies. Our results support the scenario that the variation of the 2175 Å bump is driven predominantly by processes related to star formation, such as the destruction of small dust grains by UV radiation in star-forming regions.

Vitamin D is an essential nutrient in the body. In recent years, increasing attention has been paid to its role in regulating immunity and anti-inflammatory effects. However, the application of vitamin D in vivo may produce some side effects, such as hypercalcemia and hypercalciuria. Some analogs of vitamin D obtained through molecular modification can reduce the side effects while retaining a similar regulatory action as that of vitamin D. The supplementation of vitamin D or the use of vitamin D analogs may contribute to the prevention and treatment of immune inflammatory diseases. This article reviews the role of vitamin D and its analogues in the prevention and treatment of oral mucosal diseases and periodontal diseases. The literature review results show that vitamin D and its analogues can protect the integrity of the oral mucosal barrier, prevent or delay the occurrence of oral lichen planus, and provide a reference value for the prevention and treatment of periodontitis.

Abstract Background Gain-of-function pathogenic variants of the Erb-B2 receptor tyrosine kinase 3 (ERBB3) gene contribute to the occurrence and development of a variety of human carcinomas through activation of phosphatidylinositol 3-kinase (PI3K)/AKT and extracellular signal-regulated kinase (ERK) signaling. ERBB3 gene homozygous germline variants, whose loss of function may cause autosomal recessive congenital contractural syndrome, were recently identified. This study aims to identify the disease-causing gene in a Chinese pedigree with variable phenotypes involving multiple systems, including developmental delay, postnatal growth retardation, transient lower limb asymmetry, facial malformations, atrioventricular canal malformation, bilateral nystagmus and amblyopia, feeding difficulties, immunodeficiency, anemia, and liver damage, but without congenital contracture. Methods Trio-whole exome sequencing (WES) was performed to identify the disease-causing gene in a 24-month-old Chinese female patient. The pathogenicity of the identified variants was evaluated using in silico tools and in vitro functional studies. Results Trio-WES revealed compound heterozygous variants of c.1253 T > C (p.I418T) and c.3182dupA (p.N1061Kfs*16) in the ERBB3 gene. Functional studies showed that p.I418T resulted in normal expression of ERBB3, which was capable of interacting with ERBB2. However, the variant impaired ERBB3 phosphorylation, consequently blocking ERBB2 phosphorylation and AKT and ERK activation. The truncated protein resulting from the c.3182dupA variant also lacked the capacity to activate downstream signaling pathways. Conclusions We report the first patient with a novel multisystem syndrome disorder without congenital contracture resulting from biallelic loss-of-function variants of ERBB3.

Childhood epilepsy is a considerably heterogeneous neurological condition with a high worldwide incidence. Genetic diagnosis of childhood epilepsy provides the most accurate pathogenetic evidence; however, a large proportion of highly suspected cases remain undiagnosed. Accumulation of rare variants at the exome level as a multigenic burden contributing to childhood epilepsy should be further evaluated. In this retrospective analysis, exome-level sequencing was used to depict the mutation spectra of 294 childhood epilepsy patients from Shanghai Children’s Medical Center, Department of Neurology. Furthermore, variant information from exome sequencing data was analyzed apart from monogenic diagnostic purposes to elucidate the possible multigenic burden of rare variants related to epilepsy pathogenesis. Exome sequencing reached a diagnostic rate of 30.61% and identified six genes not currently listed in the epilepsy-associated gene list. A multigenic burden study revealed a three-fold possibility that deleterious missense mutations in ion channel and synaptic genes in the undiagnosed cohort may contribute to the genetic risk of childhood epilepsy, whereas variants in the gene categories of cell growth, metabolic, and regulatory function showed no significant difference. Our study provides a comprehensive overview of the genetic diagnosis of a Chinese childhood epilepsy cohort and provides novel insights into the genetic background of these patients. Harmful missense mutations in genes related to ion channels and synapses are most likely to produce a multigenic burden in childhood epilepsy.

Methane seeps are chemosynthetic ecosystems in the deep-sea environment. Microbial community structures have been extensively studied in the seepage-affected sediments and investigation in the water column above the seeping sites is still lacking. In this study, prokaryotic communities in the bottom water about 50 cm from the seabed at methane seeps with various seepage intensities in Haima, South China Sea were comparatively studied by using 16S ribosomal RNA gene sequencing. These sites were assigned based on their distinct methane content levels and seafloor landscapes as the non-seepage (NS) site, low-intensity seepage (LIS) site, and high-intensity seepage (HIS) site. The abundances of the dominant phyla Proteobacteria, Bacteroidetes, and Actinobacteria differed significantly between NS and the two seepage sites (p < 0.05). Alpha diversity differed among the three sites with the HIS site showing the lowest community diversity. Principal component analysis revealed highly divergent bacterial community structures at three sites. Many environmental variables including temperature, alkalinity, pH, methane, dissolved organic carbon (DOC), and inorganic nutrients were measured. Redundancy analysis indicated that methane content is the key environmental factor driving bacterial community variation (p = 0.001). Linear discriminant analysis effect size analysis identified various differentially enriched genera at the LIS and HIS sites. Phylogenetic analysis revealed close phylogenetic relationship among the operational taxonomic units of these genera with known oil-degrading species, indicating oil seepage may occur at the Haima cold seeps. Co-occurrence networks indicated that the strength of microbial interactions was weakest at the HIS site. This study represents a comprehensive comparison of microbial profiles in the water column of cold seeps in the SCS, revealing that the seepage intensity has a strong impact on bacterial community dynamics.

Abstract Background Osteopetrosis is characterized by increased bone density and bone marrow cavity stenosis due to a decrease in the number of osteoclasts or the dysfunction of their differentiation and absorption properties usually caused by biallelic variants of the TCIRG1 and CLCN7 genes. Methods In this study, we describe five Chinese children who presented with anemia, thrombocytopenia, hepatosplenomegaly, repeated infections, and increased bone density. Whole‐exome sequencing identified five compound heterozygous variants of the CLCN7 and TCIRG1 genes in these patients. Results Patient 1 had a novel variant c.1555C>T (p.L519F) and a previously reported pathogenic variant c.2299C>T (p.R767W) in CLCN7. Patient 2 harbored a novel missense variant (c.1025T>C; p.L342P) and a novel splicing variant (c.286‐9G>A) in CLCN7. Patients 3A and 3B from one family displayed the same compound heterozygous TCIRG1 variant, including a novel frameshift variant (c.1370del; p.T457Tfs*71) and a novel splicing variant (c.1554+2T>C). In Patient 4, two novel variants were identified in the TCIRG1 gene: c.676G>T; p.E226* and c.1191del; p.P398Sfs*5. Patient 5 harbored two known pathogenic variants, c.909C>A (p.Y303*) and c.2008C>T (p.R670*), in TCIRG1. Analysis of the products obtained from the reverse transcription‐polymerase chain reaction revealed that the c.286‐9G>A variant in CLCN7 of patient 2 leads to intron 3 retention, resulting in the formation of a premature termination codon (p.E95Vfs*8). These five patients were eventually diagnosed with autosomal recessive osteopetrosis, and the three children with TCIRG1 variants received hematopoietic stem cell transplantation. Conclusions Our results expand the spectrum of variation of genes related to osteopetrosis and deepen the understanding of the relationship between the genotype and clinical characteristics of osteopetrosis.

Dissimilatory nitrate reduction to ammonium (DNRA) can save N by converting nitrate into ammonium and avoiding nitrate leaching and runoff in saltmarshes. However, little is known about the effects of invasive plants on DNRA in the upper and deeper soil layers in salt marshes. Here, we investigated DNRA rates in the soils of six different depth layers (0–5, 5–10, 10–20, 20–30, 30–50, and 50–100 cm) from the invasive Spartina alterniflora marshland, two native plants Scirpus mariqueter and Phragmites australis marshlands, and bare mudflat on Chongming Island, located in the Yangtze River Estuary, China. Our results show that S. alterniflora significantly increased DNRA rates in both the upper 50 cm soil and deeper 50–100 cm soil layers. With respect to the entire soil profile, the NO3− reduction content calculated from DNRA in S. alterniflora marshland was 502.84 g N m−2 yr−1, increased by 47.10%, 49.42%, and 38.57% compared to bare mudflat, S. mariquete, and P. australis, respectively. Moreover, NO3− reduction content from the 50–100 cm soil layers was almost identical to that in the upper 50 cm of the soil. In the month of May, DNRA is primarily regulated by SO42− and pH in the upper and deeper soil layers, respectively, whereas, in the month of October, soil pH accounted for the most variables of DNRA in both the upper and deeper soil layers. Altogether, these results from a new perspective confirm that S. alterniflora invasion increases soil N pool and may further push its invasion in salt marshes, and the importance of deeper soil in nitrogen cycling cannot be ignored.

Abstract Background The enzyme NOP2/Sun RNA methyltransferase 2 (NSUN2) catalyzes the methylation of cytosine to 5‐methylcytosine (m5C) at position 34 of tRNA(Leu; CAA) precursors containing introns that play a vital role in spindle assembly during mitosis and chromosome segregation. Biallelic variants in the NSUN2 gene cause a rare intellectual disability that has been identified only in a few Middle Eastern patients. Affected individuals usually have other deformities, including developmental delay, short stature, microcephaly, and facial dysmorphism. The aim of this study was to identify the genetic cause of three female patients from a Chinese pedigree, who presented with similar phenotype consisting of the above clinical features. Methods Whole‐exome sequencing (WES) was used to screen for causal variants in the genome, and the candidate variants were subsequently verified using Sanger sequencing. Results WES revealed a previously unreported homozygous nonsense variant (NM_017755.5: c.1004T>A, p.Leu335*) in exon 9 of NSUN2, which was consistent with the clinical phenotype of the patients and co‐segregated with the disease in their family. A comparison of this phenotype with that of patients in published reports uncovered several novel clinical features related to NSUN2 variations, including feeding difficulties, slender hands and fingers, severely restricted finger mobility, hallux valgus, varus foot, and elevated α‐hydroxybutyrate dehydrogenase (HBDH). Conclusions These are the first findings of a non‐consanguineous Chinese pedigree with a homozygous NSUN2 variant. We expanded the phenotypic spectrum associated with NSUN2 variations.

In order to promote the development and utilization of coconut haustorium (CH). The basic chemical composition, volatile profiles and antioxidant activities of three haustoria with different transverse diameters were investigated. Results showed large coconut haustorium (LCH) contained more soluble sugar (47.10%) and reducing sugar (17.68%), while small coconut haustorium (SCH) possessed more ash (10.17%), protein (9.22%) and fat (5.03%). All CH were rich in potassium (4.06–4.69%) and phosphorus (0.39–0.50%). The fatty acid composition of SCH and amino acid composition of middle coconut haustorium (MCH) was more reasonable, which indicated its relatively higher nutritive value. Acids ranging from 26.90% to 60.82% were the dominant volatile components in CH, especially isobutyric acid whose relative content in SCH was up to 56.78%. The haustorium extract with polysaccharide as the main component has certain antioxidant activities, the half eliminating concentration (EC50 values) of LCH on hydroxyl radical and SCH on 2,2-diphenyl-1-picrylhydrazyl (DPPH) and 2,2′-azino-bis (3-ethylbenzthiazoline-6-sulphonic acid) (ABTS) radical were 8.33, 1.18 and 2.44 mg/mL, respectively. These results provided a reference for the development and utilization of different CH as a raw material in functional food or dietary additives.

We employ the extended Nambu-Jona-Lasinio (NJL), linear-σ models, and the density-dependent model with chiral limits to work out the mean fields and relevant properties of nuclear matter. To have the constraint from the data, we re-examine the Dirac optical potentials and symmetry potential based on the relativistic impulse approximation (RIA). Unlike the extended NJL and the density-dependent models with the chiral limit in terms of the vanishing scalar density, the extended linear-σ model with a sluggish changing scalar field loses the chiral limit at the high-density end. The various scalar fields can characterize the different Schrödinger-equivalent potentials and kinetic symmetry energy in the whole density region and the symmetry potential in the intermediate density region. The drop in the scalar field due to the chiral restoration results in a clear rise of the kinetic symmetry energy. The chiral limit in the models gives rise to the softening of the symmetry potential and thereof the symmetry energy at high densities.

Abstract Background Tricho‐rhino‐phalangeal syndrome (TRPS) is a rare autosomal dominant disorder characterized by craniofacial and skeletal malformations including short stature, thin scalp hair, sparse lateral eyebrows, a pear‐shaped nose, and cone‐shaped epiphyses. This condition is caused by haploinsufficiency or dominant‐negative effect of the TRPS1 gene. Methods In this study, we analyzed the clinical and genetic data of five unrelated TRPS patients. They were suspected of having TRPS on the basis of clinical and radiological features including typical hair and facial features, as well as varying degrees of skeletal abnormalities. Next‐generation sequencing was performed to identify variants of the TRPS1 gene in the five patients. Results In patient 1, we found a novel mutation at c.1338C>A (p.Tyr446*) (de novo). Patient 2 had a novel phenotype of hydrocephaly and Arnold–Chiari syndrome and we also found a maternally inherited novel mutation at c.2657C>A (p.Ser886*). Patient 3 had a de novo novel mutation at c.2726G>C (p.Cys909Ser) leading to more severe phenotypes. Patient 4 had a paternally inherited known mutation at c.2762G>A (p.Arg921Gln). Patient 5 with a novel phenotype of hepatopathy had a novel deletion at [GRCh37] del(8)(q23.3‐q24.11) chr8:g.116,420,724‐119,124,058 (over 2,700 kb). In addition, the patient 3 who harboring missense variants in the GATA binding domain of TRPS1 showed more severe craniofacial and skeletal phenotypes. Conclusions We describe four novel mutations and two novel phenotypes in five patients. The mutational and phenotypic spectrum of TRPS is broadened by our study on TRPS mutations. Our results reveal the significance of molecular analysis of TRPS1 for improving the clinical diagnosis of TRPS.