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As a crucial component of hierarchical diagnosis and treatment systems, medical alliances in China are responsible for promoting the downward allocation of high-quality medical resources. Remote consultation, as an essential means to achieve this goal, is of practical importance in the realization of resource sharing between hospitals within medical alliances in China. The existing research on the construction of remote consultations within medical alliances has achieved fruitful results in both theory and practice. However, the establishment of remote consultation involves many factors, and the current research mainly focuses on the influence of traditional economic profit and loss on the construction of remote consultation. In view of the practical problems existing in the operation of medical and health services in China, such as the need to improve the capacity of primary medical and health services and the poor sinking effect of high-quality medical resources, it is of great importance to systematically study the promotion strategy of the construction of remote consultation within the medical alliance to build a reasonable order of medical treatment. Therefore, by determining the logical path formed by the remote consultation channel and on the basis of traditional profit and loss parameters, this paper fully considers the relevant influence of the resource sinking utility caused by the remote consultation channel. The stability of the evolutionary system is analyzed, and a numerical simulation is used to explore the impact of key parameters on system evolution. The research results indicate that the establishment of a remote consultation system between hospitals at different levels is primarily influenced by factors such as the initial proportion of the establishment strategy chosen by both parties, the establishment cost, the distribution proportion of the government subsidy, the distribution proportion of the economic benefit, and the effectiveness proportion in the utility derived from the downward allocation of resources and reputational damage. The findings suggest that moderate to high levels of reputation loss do not significantly influence the final decision-making process for either party. Government subsidies can have an impact on hospital decision-making in the early stages, and in the long term, the resource sinking utility is more appealing than the economic benefits. To a certain extent, this study enriches the related research on remote consultation and the sinking of high-quality medical resources, provides reliable theoretical and method support for the sinking of high-quality medical resources, promotes the construction of remote consultation in medical alliances in China, and provides a decision-making reference and basis for the government and health administrative departments to formulate relevant policies. [ABSTRACT FROM AUTHOR]

Habitat suitability analysis using species distribution models (SDMs) presents a valuable approach for determining appropriate land utilization strategies and crop planting decisions, which are vital to achieve optimal agricultural productivity and ensure environmental sustainability in the context of rapid global change. Aside abiotic conditions, pests emerge as the most important biological factor affecting crop growth. It can be an effective avenue to comprehensively assess land use suitability by building and integrating SDMs for both crops and their pests. Using the MaxEnt model and a bivariate map, we predicted and integrated the habitat suitability of tea (Camellia sinensis) and its primary insect herbivore (Empoasca onukii) in China. Our study explicitly revealed spatial heterogeneity in suitability between the two species, despite finding that they shared common environmental predictors (i.e., temperature, elevation, and soil pH). Results support South China and Southwest China as the most favorable areas for tea cultivation, while highlighting the adverse climatic challenges on tea growth in the middle and lower reaches of the Yangtze River and in the northern regions of the Yangtze River. Meanwhile, analyses emphasize the necessity of sustainable leafhopper management strategies in the middle and lower reaches of the Yangtze River and in regions along the southeast coast. These findings demonstrate the significance of comparative analysis on the habitat suitability of both crops and insect herbivores, providing valuable insights for agricultural production planning and sustainable pest management. Furthermore, the methods employed in this study hold potential for the application in diverse context, ranging from the control of invasive species to the conservation of endangered biodiversity. [ABSTRACT FROM AUTHOR]

The Huangling gold deposits belong to orogenic gold deposits, forming during the tectonic transformation period at ca. 830–800 Ma. [Display omitted] • Gold mineralization in the Huangling region occurred ca. 830-800 Ma. • The timing of gold mineralization coincided with the tectonic transformation period. • The Huangling gold deposits belong to orogenic gold deposits. The Huangling region of northwestern Hubei Province, which contains 76 gold deposits with more than 310 gold-quartz veins, is located in the northern part of the Yangtze Craton, South China Block. Despite several geological and geochronological studies conducted on gold deposits in this region, the timing and origin of gold mineralization remain controversial. This study utilizes in situ U–Pb dating of apatite and monazite from representative ores from the Banchanghe, Hongwucun, and Sunjiahe gold deposits to determine the timing of gold mineralization. The results indicate that gold mineralization occurred ca. 830–800 Ma, which is consistent with the period of tectonic transformation in the region. This study proposes that the gold deposits in the Huangling region represent typical orogenic gold deposits. These findings indicate a rare example of a well-preserved early Neoproterozoic orogenic gold system, suggesting the existence of orogenic gold deposits during the growth of the Rodinia supercontinent. This study highlights the significant potential for further exploration in the deep of the Huangling region to uncover additional gold veins. These findings also suggest that the Neoproterozoic orogenic belts of the Yangtze Craton may serve as important targets for gold deposit exploration in the future. [ABSTRACT FROM AUTHOR]

BACKGROUND: The tea green leafhopper, Empoasca onukii Matsuda, is the most destructive insect pest of tea plantations in East Asia. Despite its economic importance and previous studies on this species, it remains unclear as to how this small‐sized pest can have such wide range. RESULTS: By sequencing three mitochondrial genes and 17 microsatellite loci, we revealed the regional structure and demographic expansion of 59 E. onukii populations in China. Bayesian analysis of population genetic structure (BAPS) on microsatellites identified four genetic groups with spatial discontinuities, while analysis on mitochondrial genes inferred five nested and differentiated clusters. Both the Mantel test and the generalized linear model indicated a significant pattern of isolation by geographic distance in E. onukii populations. Based on the approximate Bayesian computation approach, E. onukii was found to have originated from southwestern China and expanded northward and eastward. While MIGRATE‐N and Bayesian stochastic search variable selection (BSSVS) procedure in BEAST confirmed the possible eastward and northward dispersal from Yunnan, they also detected more gene flow from the derived populations in central and southeastern China. CONCLUSION: Our results suggest that the current distribution and structure of E. onukii is complicatedly influenced by human activities of cultivation, wide dissemination of tea in ancient China as well as recent transportation of tea seedlings for establishing new tea plantations. Insights into genetic differentiation and demographic expansion patterns from this study provide an important basis for the development of area‐wide management of the E. onukii populations. © 2022 Society of Chemical Industry. [ABSTRACT FROM AUTHOR]

The reserve of Tamarix forest, located in Changyi, China, is the only national marine special reserve taking Tamarix as the main object of protection. Compared with conventional monitoring technology, remote sensing technology can more comprehensively reflect the ecological environment status and spatial–temporal variation of monitoring objects. Based on spectral characteristics and remote sensing vegetation indices, the ecological status and spatial–temporal variation of Tamarix chinensis forest in the reserve deserve further exploration. Therefore, spectral characteristic, typical vegetation indices, comprehensive health index, VFC, and REP were analyzed based on Sentinel-2A images. Spatial–temporal variation analysis during 2014 to 2018 was analyzed based on GF-1 images. The research result indicated that ecological quality of protection zone showed an overall growth trend with the help of artificial ecological restoration, and it is possible to continuously implement ecological recovery towards the protection zone. [ABSTRACT FROM AUTHOR]

New petrological, whole-rock geochemical, zircon U–Pb geochronological, and zircon Lu–Hf isotopic data have been reported for Early Cretaceous intrusive rocks in the Wulong region of the Liaodong Peninsula on the North China Craton. The zircon U-Pb chronology shows that the crystallization age of six groups of intrusive rocks from this region is 129–123 Myr ago. These intrusive rocks can be categorized into A-type granite (granodiorite), K-rich adakite (porphyritic-like monzogranite), highly fractionated I-type granites (porphyritic-like biotite monzogranite, porphyritic-like syenogranite, and syenogranite), and gabbro. These granitoids are shown to have negative zircon εHf(t) values(-21.0 to -11.1) with old two-stage Hf model ages (TDM2(Hf)) (1.88–2.50 Ga), while gabbro has higher zircon εHf(t) values(-14.3 to -9.4) with younger TDM2(Hf) (1.77–2.08 Ga) model ages. According to our results, we believe that the porphyritic-like monzogranite was produced through partial melting of the thickened eclogitic lower crust, the gabbro was generated by partial melting of a source formed by the mixing of enriched lithospheric mantle and delaminated eclogitic lower crust, the granodiorite was formed by mixing crust materials and mafic melts, the porphyritic-like biotite monzogranite, porphyritic-like syenogranite, and syenogranite originated from the medium- to high-K basaltic lower crust. The bimodal intrusive rocks (gabbro, porphyritic-like monzogranite, and porphyritic-like biotite monzogranite) and A-type granites (granodiorite) were emplaced in an extensional setting associated with Paleo-Pacific Plate subduction. We also determined that the tectonic setting changed from extension to transpression during 125–120 Myr ago (porphyritic-like syenogranite and syenogranite). Moreover, we confirmed the hypothesis that the Early Cretaceous delamination is the result of Paleo-Pacific Plate subduction. [ABSTRACT FROM AUTHOR]

[Display omitted] • S ulfide minerals from Hongtoushan Cu-Zn-Au deposit have slightly various δ34S Δ33S values. • The slightly negative mass-independent fractionation indicates a dominant igneous source of sulfur with ∼2.5–3.5 % seawater sulfate contribution. • Multiple sulfur isotope analyses may be used to predict the size, the grade of Cu, and the grade of Au for the Archean VMS deposits. In-situ multiple sulfur isotope analyses of pyrite, pyrrhotite, and chalcopyrite from the ∼2.55 Ga Hongtoushan Cu-Zn-Au VMS deposit are reported. Three sulfide minerals (pyrite, pyrrhotite, chalcopyrite) display slightly different mean δ34S values of +0.94 ‰, +0.60 ‰, and +0.57 ‰ and mean Δ33S values of –0.07 ‰, –0.02 ‰, and –0.05 ‰, respectively. The sulfide minerals show obvious signatures of slightly negative mass-independent fractionation for sulfur isotopes, indicating a dominant igneous source of sulfur with ∼2.5–3.5 % seawater sulfate contribution during the formation of this deposit. According to the suggestion by Chen et al. (2015) that the ore tonnages of Archean VMS deposits are linked to the Δ33S values, the Hongtoushan deposit may have greater prospecting potential. This study also proposes that not only do high Au-grade Archean VMS deposits have relatively high Δ33S values (near-zero) as suggested by Sharman et al. (2015), but low Au-grade Archean VMS deposits might also have high Δ33S values (near-zero). The Cu grades may also be directly linked to the Δ33S values for the Archean VMS deposits, as a greater seawater contribution (rapid temperature decrease; more negative Δ33S values) would be linked to higher Cu grades. These new findings may have great implications for our understanding of Archean VMS deposit genesis, and multiple sulfur isotope analyses may be used to predict the size, grade of Cu, and grade of Au for Archean VMS deposits. [ABSTRACT FROM AUTHOR]

The tectonic setting of Jurassic magmatism in the Northeast China (NE China) is unclear. Here, we present new petrological, whole-rock geochemical, zircon U-Pb geochronological, and zircon Lu-Hf isotope data for Jurassic granitoids of the Wulong region, Liaodong Peninsula, NE China. Laser ablation-inductively coupled plasma-mass spectrometry (LA-ICP-MS) zircon U-Pb data indicate that these granitoids were emplaced at 165–156 Ma. The biotite monzogranite, two-mica monzogranite, monzogranite, granodiorite, biotite granodiorite, and syenogranite are strongly peraluminous (A/CNK=1.09–1.29), contain peraluminous minerals such as muscovite, have high normative corundum abundances (1.26 wt.%–3.28 wt.%), and have high K2O/Na2O ratios (0.76–1.48), all of which indicate an S-type granite affinity. However, the biotite granodiorite and syenogranite have high Sr (391 ppm–570 ppm) and low Y (3.06 ppm–5.94 ppm) contents, with high Sr/Y (65.8–185.9) ratios, and the two-mica monzogranite, monzogranite, and granodiorite have relatively high Sr (138 ppm–379 ppm) and low Y (3.38 ppm–8.71 ppm) contents, with high Sr/Y ratios (19.1–77.9). All of the analyzed samples have negative zircon εHf(t) values (−41.4 to −20.6) with old two-stage Hf model ages (TDM2(Hf)=2.50–3.76 Ga). Therefore, we infer that the biotite monzogranite is the typical feature of S-type granite that was derived by partial melting of metagraywacke. The monzogranite, two-mica monzogranite, granodiorite, biotite granodiorite, and syenogranite exhibit geochemical characteristics of S-type granite with K-rich adakitic features, and were possibly derived by mixing of melts from clastic crustal materials and adakitic magmas. There are voluminous Jurassic igneous rocks in the NE China. By combining our study with the previous researches, this paper infers that the Jurassic magmatism within the Erguna-Xing'an Massif was related to the southward subduction and closure of the Mongol-Okhotsk Ocean; the Early Jurassic magmatism to the east of the Songliao Basin and in the northern North China Craton (NCC) was related to the subduction of the Pacific Plate; however, the Middle-Late Jurassic igneous rocks to the west of the Songliao Basin were related to the closure of the Mongol-Okhotsk Ocean and, in the northern NCC, were related to closure of the Mongol-Okhotsk Ocean with an influence from flat-slab subduction of the Pacific Plate. [ABSTRACT FROM AUTHOR]

Populus tomentosa, of section Populus, is distributed mainly in northern China. This species has high resistance to many diseases and insects, and it plays key roles in shelterbelts and urban afforestation in northern China. It has long been suspected to be a hybrid, but its parents remain unknown. In the present study, we report four newly sequenced complete cp genomes from section Populus and comparative genomic analyses of these new sequences and three published cp genome sequences. The seven cp genomes ranged from 155,853 bp (P. tremula var. davidiana) to 156,746 bp (P. adenopoda) in length, and their gene orders, gene numbers and GC contents were similar. We analyzed SNPs, indels, SSRs and repeats among the seven cp genomes, and eight small inversions were detected in the ndhC-trnV, rbcL-accD, petA-psbJ, trnW-trnP, rpl16-rps3, trnL-ycf15, ycf15-trnL, and ndhF-trnL intergenic regions. Furthermore, seven divergent regions (trnH-psbA, matK, psbM-psbD, ndhC-trnV, ycf1, ndhF-ccsA and ccsA-ndhD) were found in more highly variable regions. The phylogenetic tree reveals that P. tomentosa is closely related to P. alba and P. alba var. pyramidalis. Hence, P. alba was involved in the formation of P. tomentosa. [ABSTRACT FROM AUTHOR]

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Abstract: A novel small antibacterial peptide was obtained from the liquid culture of Brevibacillus brevis XDH, which is a broad-spectrum antagonistic bacterium isolated from the soil of Mountain Tai, China. This peptide was purified from the fermentation medium of strain XDH via ammonium sulfate precipitation, cation exchange chromatography, and reversed-phase high-performance liquid chromatography (HPLC), successively. The structure of the active linear peptide was elucidated using mass spectra (MS) and nuclear magnetic resonance (NMR) analyses that consisted of nine amino acids. This peptide was easily soluble in water, thermally stable and strongly inhibited the growth of Escherichia coli and Staphylococcus aureus in vitro. The present data support the identification of a novel antibacterial peptide, which was named Tostadin. [Copyright &y& Elsevier]

The onset and progression of periodontitis involves complicated interactions between the dysbiotic oral microbiota and disrupted host immune-inflammatory response, which can be mirrored by the changes in salivary metabolites profile. This pilot study sought to examine the saliva microbiome and metabolome in the Chinese population by the combined approach of 16s rRNA sequencing and high-throughput targeted metabolomics to discover potential cues for host-microbe metabolic interactions. Unstimulated whole saliva samples were collected from eighteen Stage III and IV periodontitis patients and thirteen healthy subjects. Full-mouth periodontal parameters were recorded. The taxonomic composition of microbiota was obtained by 16s rRNA sequencing, and the metabolites were identified and measured by ultra-high performance liquid chromatography and mass spectrometry-based metabolomic analysis. The oral microbiota composition displayed marked changes where the abundance of 93 microbial taxa differed significantly between the periodontitis and healthy group. Targeted metabolomics identified 103 differential metabolites between the patients and healthy individuals. Functional enrichment analysis demonstrated the upregulation of protein digestion and absorption, histidine metabolism, and nicotinate and nicotinamide metabolism pathways in the dysbiotic microbiota, while the ferroptosis, tryptophan metabolism, glutathione metabolism, and carbon metabolism pathways were upregulated in the patients. Correlation analysis confirmed positive relationships between the clinical parameters, pathogen abundances, and disease-related metabolite levels. The integral analysis of the saliva microbiome and metabolome yielded an accurate presentation of the dysbiotic oral microbiome and functional alterations in host-microbe metabolism. The microbial and metabolic profiling of the saliva could be a potential tool in the diagnosis, prognosis evaluation, and pathogenesis study of periodontitis., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Tea green leafhopper (TGL), Empoasca onukii, is of biological and economic interest. Despite numerous studies, the mechanisms underlying its adaptation and evolution remain enigmatic. Here, we use previously untapped genome and population genetics approaches to examine how the pest adapted to different environmental variables and thus has expanded geographically. We complete a chromosome-level assembly and annotation of the E. onukii genome, showing notable expansions of gene families associated with adaptation to chemoreception and detoxification. Genomic signals indicating balancing selection highlight metabolic pathways involved in adaptation to a wide range of tea varieties grown across ecologically diverse regions. Patterns of genetic variations among 54 E. onukii samples unveil the population structure and evolutionary history across different tea-growing regions in China. Our results demonstrate that the genomic changes in key pathways, including those linked to metabolism, circadian rhythms, and immune system functions, may underlie the successful spread and adaptation of E. onukii. This work highlights the genetic and molecular basis underlying the evolutionary success of a species with broad economic impacts, and provides insights into insect adaptation to host plants, which will ultimately facilitate more sustainable pest management., (Copyright © 2022. Published by Elsevier B.V.)

Six new C 19 -aconitine-type diterpenoid alkaloids, pendulumines A-F (1-6), together with six known ones (7-12), were isolated from the rhizomes of Aconitum pendulum. Their structures were elucidated using extensive spectroscopic data analysis, including 1D and 2D NMR, MS, and single-crystal X-ray diffraction analysis. The isolates were also tested for their analgesic activity based on the thermal avoidance response of the roundworm Pirstionchus pacificus, and 9 showed significant biological activity with an EC 50 value of 0.08 ± 0.02 mg.mL -1 ., (Copyright © 2021 Elsevier B.V. All rights reserved.)

Purpose: To identify the genetic defect in a four-generation Chinese family that causes autosomal dominant congenital posterior subcapsular cataracts, and to understand how this EPHA2 kinase domain mutation affects EPHA2 activity., Methods: Variants in 54 cataract-associated genes were screened by targeted next generation sequencing (NGS) and then validated by Sanger sequencing. EPHA2 wild-type cDNA was synthesized in vitro, and EPHA2 p.G668D mutant was constructed by PCR site-directed mutagenesis. Western blotting and fluorescence microscopy were used to analyze the expression level of protein and its subcellular localization, respectively. A wound-healing assay was performed to analyze changes to cell migration., Results: A novel heterozygous missense mutation was identified in the kinase domain of the EPHA2 gene (c.2003G>A, p.G668D). This is the third congenital cataract mutation being reported in this domain. Functional study revealed that the kinase domain mutation (p.G668D) decreased EphA2 protein level (P = 0.036) via a proteasome-dependent pathway, altered its subcellular localization of the EphA2 from cell-cell contacts to a diffuse perimembranous distribution, and changed the distribution of β-catenin as well. The expression of mutant EphA2 significantly promoted the migration of human lens epithelial cells (P = 0.002)., Conclusions: Our study presented the evidence for a novel EPHA2 kinase domain mutation that causes congenital posterior subcapsular cataracts. The first functional study on an EPHA2 kinase domain mutation that causes a congenital cataract revealed that the G668D mutation destabilized the receptor, changed its subcellular localization, and altered the activation of EphA2 with its ligand ephrin. The mutant EphA2 resulted in a reduced inhibition of cell migration. As a consequence, the c.G668D mutation promoted cell migration and caused the formation of cataracts.

Background: Naphthalene is the simplest polycyclic aromatic hydrocarbon (PAH). It is easily emitted into the atmosphere, posing a significant risk to human health. However, limited studies have described the impact of naphthalene exposure on birth outcomes. In this study, we investigated the association between the maternal urinary metabolites of naphthalene, 2-hydroxynaphthalene (2-OH NAP), and birth outcomes., Method: In the present study, four urinary PAH metabolites were measured in 263 pregnant women during late pregnancy. Multiple linear regression analysis was used to analyze the relationship between the concentrations of 2-OH NAP and birth outcomes, and restricted cubic spline models were further used to examine the shapes of the dose-response association., Result: General linear models showed that prenatal urinary 2-OH NAP was associated with lower birth weight (BW) (- 4.38% for the high vs. low exposure group of 2-OH NAP; p for trend = 0.049) and higher cephalization index (CI) (4.30% for the high vs. low exposure group of 2-OH NAP; p for trend = 0.038). These associations were linear and significant when 2-OH NAP was modeled as a continuous variable in restricted cubic spline models (P linear  = 0.0293 for 2-OH NAP and BW; P linear  = 0.0326 for 2-OH NAP and CI). Multiple linear regression data indicated that each 1 ln-unit increase in 2-OH NAP was significantly associated with a 2.09 g/cm increase in the CI. The associations among 2-OH NAP, BW, and CI were also observed in a subset of participants residing close to arterial traffic., Conclusion: Our data indicated that prenatal exposure to naphthalene had an adverse effect on fetal birth outcomes, especially the brain development index. Reduced exposure to naphthalene may improve newborn health outcomes. In Taiyuan, naphthalene may result from traffic pollution.

Objective: The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts., Methods: Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products., Results: The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls., Conclusions: This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

Purpose: To identify the underlying genetic defect in four generations of a Chinese family affected with bilateral congenital posterior subcapsular cataracts., Methods: Clinical data from patients in the family were recorded by slit-lamp photography. Genomic DNA samples were extracted from peripheral blood of the pedigree members. Mutation screening was performed in the candidate gene by bidirectional sequencing of the amplified products. The mutation was verified by restriction fragment length polymorphism (RFLP) analysis., Results: The congenital cataract phenotype of the pedigree was identified as posterior subcapsular by slit-lamp photography. Sequencing of the candidate genes detected a heterozygous c.5C→T change in the coding region of the βB2-crystallin gene (CRYBB2), resulting in the substitution of a highly conserved alanine to valine (p. A2V). All nine family members affected with cataracts were positive for this change, but it was not observed in any of the unaffected members of the family. The transition resulted in the loss of a HaeIII restriction site in the affected members of the pedigree, which was present in the unaffected family members and in all of the 100 unrelated individuals tested., Conclusions: This study has identified a novel CRYBB2 gene mutation, resulting in the amino substitution p. A2V in a Chinese family with posterior subcapsular congenital cataracts. This mutation is probably the causative lesion for the observed phenotype in this family.

Purpose: To characterize the disease-causing mutations in a Chinese family with progressive childhood cataracts., Methods: Family history and clinical data were recorded. Direct gene sequencing together with multi-point linkage analysis using microsatellite markers flanking the gene was applied to identify the disease-causing mutation., Results: Lens examination in the affected members revealed childhood cataracts along with progressive developing fetal nuclear lactescent cataracts with 'Y' sutural opacities, and also progressive developing peripheral cortical opacities. Direct gene sequencing showed a G>A transition at the donor splice site of intron 3 (IVS3+1 G>A) of the βA1/A3-crystallin gene (CRYBA3/A1) in this Chinese autosomal dominant childhood cataract family, and the maximum heterogeneity logarithm of odds (HLOD) score obtained by multi-point analysis was detected at marker locus D17S1800 (HLOD=3.005; α=1.000)., Conclusions: To our knowledge, this is the first report of a phenotype of progressive nuclear and cortical cataracts related to the CRYBA3/A1 mutation IVS3+1 G>A. This finding expands the spectrum of cataract phenotypes caused by the IVS3+1 G>A mutation of CRYBA3/A1, confirms the phenotypic heterogeneity of this mutation and suggests the mechanism that influences the cataractogenesis in different ethnic backgrounds.

Purpose: To detect the underlying genetic defect in a Chinese family affected with bilateral congenital cataracts., Methods: A detailed family history and clinical data were recorded. Mutation screening was performed in the nuclear cataract-related gene by bidirectional sequencing of the amplified products. The mutation was verified by denaturing high-performance liquid chromatography (DHPLC)., Results: Two cataract phenotypes were observed within this family: one eye exhibited Y-suture and nuclear pulverulent opacification of the lens, while the others exhibited complete opacification in the fetal nuclear region. Sequencing of the candidate genes detected a heterozygous c.319G>A change in the coding region of the major intrinsic protein (MIP), resulting in the substitution of a highly conserved Valine by Isoleucine (p.V107I).The mutation was confirmed by DHPLC., Conclusions: This study has identified a novel MIP mutation, p.V107I in a Chinese family with congenital cataracts. To the best of our knowledge, this is the first reported case of cataracts caused by a mutation in the second extracellular loop domain of MIP.