1.Effect of Huatan Qushi Huoxue prescription on macrophage efferocytosis mediated by a disintegrin and metalloproteinase 17 and triggering receptor expressed on myeloid cells 2 in rats with metabolic dysfunction-associated steatohepatitis
Lihui ZHANG ; Sutong LIU ; Qing ZHAO ; Shanzheng LI ; Minghao LIU ; Wenxia ZHAO
Journal of Clinical Hepatology 2026;42(2):345-355
ObjectiveTo investigate the therapeutic effect and mechanism of Huatan Qushi Huoxue prescription on rats with metabolic dysfunction-associated steatohepatitis (MASH). MethodsA total of 60 specific pathogen-free Sprague-Dawley rats were randomly divided into blank control group, model A group, model B group, Western medicine group (polyene phosphatidylcholine, 143.64 mg/kg), high-dose Chinese medicine group (Huatan Qushi Huoxue prescription, 20.16 g/kg), and middle-dose Chinese medicine group (Huatan Qushi Huoxue prescription, 10.08 g/kg). All rats except those in the blank control group were given high-fat diet. Samples were collected from the model A group at week 8, and since week 12, the other groups were given the corresponding drug once a day for 8 consecutive weeks, with samples collected at week 20. Body weight, liver wet weight, and liver index were measured for all rats; the microplate method was used to measure the serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and free fatty acids (FFA); ELISA was used to measure the serum levels of tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β), interleukin-6 (IL-6), and soluble triggering receptor expressed on myeloid cells 2 (sTREM2); HE staining and oil red O staining were performed to observe liver histopathological changes; immunofluorescence assay was used to measure CD68+TREM2+ cells in liver tissue and calculate the phagocytosis rate of macrophages; quantitative real-time PCR was used to measure the mRNA expression levels of sphingosine 1-phosphate (S1P), sphingosine 1-phosphate receptor 1 (S1PR1), a disintegrin and metalloproteinase 17 (ADAM17), and triggering receptor expressed on myeloid cells 2 (TREM2) in liver tissue, and immunohistochemistry was used to measure the protein expression levels of S1P, S1PR1, ADAM17, and TREM2 in liver tissue. A one-way analysis of variance was used for comparison of normally distributed continuous data with homogeneity of variance between groups, and the least significant difference t-test was used for further comparison between two groups; the Welch’s test was used for comparison of normally distributed continuous data with heterogeneity of variance between groups, and the Tamhane’s test was used for further comparison between two groups. The Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between groups, and the Dunn’s test was used for further comparison between two groups. ResultsCompared with the blank control group, the model A group and the model B group had significant increases in body weight and liver wet weight, and the model B group had a significant increase in liver index (all P<0.05). HE staining showed diffuse macrovesicular steatosis of liver tissue in the model A group and a large number of hepatocytes with ballooning degeneration in liver tissue in the model group B, with the presence of mixed inflammatory cell infiltration and mild perisinusoidal fibrosis in the lobules and the portal area. Compared with the blank control group, the model A group and the model B group had significant increases in NAS score and oil red O-positive area (all P<0.05), and the model B group had significant increases in these two indicators than the model A group (both P<0.05). Compared with the blank control group, the model A group and the model B group had significant increases in the serum levels of TC, TG, LDL-C, FFA, IL-1β, IL-6, and sTREM2 and a significant reduction in the serum level of HDL-C, and the model B group had significant increases in the serum levels of ALT, AST, and TNF-α (all P<0.05); compared with the model A group, the model B group had significant increases in the serum levels of ALT, AST, TC, TG, FFA, TNF-α, IL-1β, IL-6, and sTREM2 and a significant reduction in the serum level of HDL-C (all P<0.05). Immunofluorescence assay showed that compared with the blank control group, the model A group had a significant increase in the phagocytosis rate of macrophages (P<0.05), while the model B group had a significantly lower phagocytosis rate of macrophages than the model A group (P<0.05). Quantitative real-time PCR showed that compared with the blank control group, the model A group and the model B group had a significant increase in the mRNA expression level of TREM2, and the model B group had significant increases in the mRNA expression levels of S1P and S1PR1 (both P<0.05); moreover, compared with the model A group, the model B group had significant increases in the mRNA expression levels of S1PR1 and TREM2 (both P<0.05). Immunohistochemistry showed that compared with the blank control group, the model A group and the model B group had significant increases in the protein expression levels of S1P, S1PR1, and ADAM17, and the model A group had a significant increase in the protein expression level of TREM2 (all P<0.05); compared with the model A group, the model B group had significant increases in the protein expression levels of S1P, S1PR1, and ADAM17 and a significant reduction in the protein expression level of TREM2 (all P<0.05). Compared with the model B group, each medication group had significant reductions in body weight, liver wet weight, and liver index (all P<0.05); each medication group had significant improvements in hepatic steatosis and inflammatory damage, with significant reductions in NAS score and oil red O-positive area (all P<0.05); each medication group had significant reductions in the serum levels of ALT, AST, TC, TG, FFA, IL-1β, and IL-6 (all P<0.05) and a significant increase in the serum level of HDL-C (P<0.05), and the high-dose Chinese medicine group had a significant reduction in the serum level of TNF-α (P<0.05); each medication group had a significant increase in the phagocytosis rate of macrophages (all P<0.05); the high- and middle-dose Chinese medicine groups had a significant reduction in the protein expression level of ADAM17, and the high-dose Chinese medicine group had a significant increase in the protein expression level of TREM2 (all P<0.05). ConclusionHuatan Qushi Huoxue prescription improves lipid metabolism and inflammation in the liver of MASH rats by regulating hepatic macrophage phagocytosis.
2.Connotation, characteristics, and research status of post-traumatic growth in rescuers
Jianying LI ; Wenxia LI ; Changjun LI
Journal of Environmental and Occupational Medicine 2025;42(2):245-250
As two different groups in disasters or accidents, despite the differences in roles and experiences between rescuers and victims, both of them may be exposed to traumatic stimuli and have the potential to obtain post-traumatic growth (PTG). Through the analysis of existing documents and actual situation, it was found that the traumatic experiences, the connotation and characteristics of PTG in rescuers may be essentially different from those of the victims. The traumatic experiences were significantly different between the rescuers and the victims, such as preparedness, quantity and types, risk and protective factors, as well as the trauma outcomes. In terms of the connotation of PTG, rescuers may generate various positive emotions and career growth that victims cannot. Regarding the characteristics of PTG, rescuers exhibited by professionalism, complexity of dynamic processes, and richness of static connotations. However, the measurements and theoretical basis in extant research on the PTG of rescuers were both developed on the studies of victims, which has certain limitations. To more effectively explore this research field, future research is needed to deeply analyze the connotation of PTG of rescuers and construct appropriate theoretical models.
3.Study on the protective efect and mechanism of paeoniflorin on palmitic acid-induced HepG2 cells
Tong LIU ; Shanzheng LI ; Cheng ZHOU ; Sutong LIU ; Lihui ZHANG ; Wenxia ZHAO
Journal of Clinical Hepatology 2025;41(3):499-505
ObjectiveTo investigate the role and mechanism of action of paeoniflorin (PF) in protecting HepG2 cells induced by palmitic acid (PA). MethodsHepG2 cells were stimulated with PA at a concentration of 250 μmol/L to establish a NAFLD model. Compound C at a concentration of 10 μmol/L was used as an inhibitor, and PF at a concentration of 25 μmol/L was used for intervention. The experiment was divided into normal group (CON group) treated with complete culture medium, model group (MOD group) treated with PA, PF treatment group (MOD+PF group) treated with PA and PF, model+inhibitor group (MOD+COM group) treated with PA and Compound C, and model+inhibitor+PF group (MOD+COM+PF group) treated with PA, Compound C, and PF. Kits were used to measure lipid deposition indicators, liver function parameters, oxidative stress indicators, and inflammation indicators; oil red O staining was used to observe lipid deposition; Western Blot was used to measure the protein expression levels of AMPK, SIRT1, PGC-1α, mTOR, Beclin-1, LC3, and P62 in cells. The one-way analysis of variance was used for comparison of quantitative data between groups, while the Tukey’s test was used for comparison between two groups. ResultsCompared with the MOD group, PF improved the levels of TC and TG (P<0.05), reduced the levels of ALT, AST, CRP, TNF-α, IL-1β, and IL-6 (P<0.05), increased the activity of SOD and CAT and the level of GSH, and reduced the level of MDA in cells (all P<0.05). Oil red O staining showed that PF alleviated lipid deposition in cells. Western blot results showed that compared with the MOD group, PF increased the protein expression levels of p-AMPK, SIRT1, PGC-1α, LC3Ⅱ/LC3Ⅰ, and Beclin-1 and reduced the protein expression levels of p-mTOR and P62 (all P<0.05). ConclusionPF can inhibit PA-induced oxidative stress and inflammatory response in HepG2 cells, improve lipid deposition, and promote autophagy via the AMPK/SIRT1/PGC-1α/mTOR signaling pathway.
4.Clinical Effect of Xiaozhi Hugan Capsules in Treatment of Patients with Non-alcoholic Steatohepatitis and Its Impact on Serum IL-6 and MCP-1
Xiaoyan LIU ; Suping MA ; Qingliang MA ; Chunxiao LI ; Lihui ZHANG ; Huaxin CHEN ; Wenxia ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):185-192
ObjectiveTo observe the clinical effect of Xiaozhi Hugan capsules in treating patients with non-alcoholic steatohepatitis (NASH) combined with phlegm-dampness and blood stasis syndrome and its effects on serum interleukin-6 (IL-6) and monocyte chemoattractant protein-1 (MCP-1). MethodsA total of 124 patients with NASH combined with phlegm-dampness and blood stasis syndrome who were admitted to the Department of Spleen, Stomach, and Hepatobiliary Diseases, the First Affiliated Hospital of Henan University of Chinese Medicine from July 2020 to December 2022 were selected. According to the random number table method, patients were randomly divided into an observation group (62 cases) and a control group (62 cases). The treatment duration was 6 months. The observation group received Xiaozhi Hugan capsules orally, while the control group received polyene phosphatidylcholine capsules. The efficacy indicators included alanine aminotransferase (ALT), aspartate aminotransferase (AST), controlled attenuation parameter (CAP), liver stiffness measurement (LSM), traditional Chinese medicine (TCM) syndrome scores (discomfort/dull pain/distending pain in liver region, fatigue, etc.), body mass index (BMI), waist-to-height ratio (WHtR), high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC), triglycerides (TG), homeostatic model assessment for insulin resistance (HOMA-IR) [including fasting blood glucose (FBG) and fasting insulin level (INS)], free fatty acids (FFA), IL-6, and MCP-1. Adverse drug reactions were recorded. ResultsAfter treatment, the total effective rate in the observation group was 92.3% (48/52), while that in the control group was 75.5% (39/49). The total effective rate in the observation group was higher than that in the control group (χ2=5.339, P<0.05). After treatment, the TCM syndrome scores in both groups were significantly reduced (P<0.05), and the post-treatment scores in the observation group were better than those in the control group (P<0.05). After treatment, the levels of ALT, AST, TC, FFA, fasting insulin (FINS), HOMA-IR, MCP-1, IL-6, CAP, LSM, BMI, and WHtR were decreased (P<0.05) significantly in both groups, and the observation group showed superior improvement in the above indicators compared to the control group (P<0.05). The observation group exhibited significant reductions in TG and FBG (P<0.05) and an increase in HDL-C (P<0.05), while no significant changes were observed in the control group. The observation group was superior to the control group after treatment (P<0.05). No severe adverse reactions occurred in either group during the treatment. ConclusionXiaozhi Hugan capsules have significant clinical efficacy in treating patients with NASH combined with phlegm-dampness and blood stasis syndrome. It reduces hepatic steatosis, lowers liver stiffness, inhibits the expression of serum inflammatory factors, and alleviates liver inflammation. No obvious adverse reactions occur, suggesting it is suitable for clinical application.
5.Clinical Effect of Xiaozhi Hugan Capsules in Treatment of Patients with Non-alcoholic Steatohepatitis and Its Impact on Serum IL-6 and MCP-1
Xiaoyan LIU ; Suping MA ; Qingliang MA ; Chunxiao LI ; Lihui ZHANG ; Huaxin CHEN ; Wenxia ZHAO
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(12):185-192
ObjectiveTo observe the clinical effect of Xiaozhi Hugan capsules in treating patients with non-alcoholic steatohepatitis (NASH) combined with phlegm-dampness and blood stasis syndrome and its effects on serum interleukin-6 (IL-6) and monocyte chemoattractant protein-1 (MCP-1). MethodsA total of 124 patients with NASH combined with phlegm-dampness and blood stasis syndrome who were admitted to the Department of Spleen, Stomach, and Hepatobiliary Diseases, the First Affiliated Hospital of Henan University of Chinese Medicine from July 2020 to December 2022 were selected. According to the random number table method, patients were randomly divided into an observation group (62 cases) and a control group (62 cases). The treatment duration was 6 months. The observation group received Xiaozhi Hugan capsules orally, while the control group received polyene phosphatidylcholine capsules. The efficacy indicators included alanine aminotransferase (ALT), aspartate aminotransferase (AST), controlled attenuation parameter (CAP), liver stiffness measurement (LSM), traditional Chinese medicine (TCM) syndrome scores (discomfort/dull pain/distending pain in liver region, fatigue, etc.), body mass index (BMI), waist-to-height ratio (WHtR), high-density lipoprotein cholesterol (HDL-C), total cholesterol (TC), triglycerides (TG), homeostatic model assessment for insulin resistance (HOMA-IR) [including fasting blood glucose (FBG) and fasting insulin level (INS)], free fatty acids (FFA), IL-6, and MCP-1. Adverse drug reactions were recorded. ResultsAfter treatment, the total effective rate in the observation group was 92.3% (48/52), while that in the control group was 75.5% (39/49). The total effective rate in the observation group was higher than that in the control group (χ2=5.339, P<0.05). After treatment, the TCM syndrome scores in both groups were significantly reduced (P<0.05), and the post-treatment scores in the observation group were better than those in the control group (P<0.05). After treatment, the levels of ALT, AST, TC, FFA, fasting insulin (FINS), HOMA-IR, MCP-1, IL-6, CAP, LSM, BMI, and WHtR were decreased (P<0.05) significantly in both groups, and the observation group showed superior improvement in the above indicators compared to the control group (P<0.05). The observation group exhibited significant reductions in TG and FBG (P<0.05) and an increase in HDL-C (P<0.05), while no significant changes were observed in the control group. The observation group was superior to the control group after treatment (P<0.05). No severe adverse reactions occurred in either group during the treatment. ConclusionXiaozhi Hugan capsules have significant clinical efficacy in treating patients with NASH combined with phlegm-dampness and blood stasis syndrome. It reduces hepatic steatosis, lowers liver stiffness, inhibits the expression of serum inflammatory factors, and alleviates liver inflammation. No obvious adverse reactions occur, suggesting it is suitable for clinical application.
6.Mass screening for CD36 antigen expression and analysis of negative donor structure and supply capacity
Yunping XU ; Tangrui XIONG ; Fan YANG ; Wenxia XIA ; Ximiao LI ; Huatao CHE ; Zhilei LI
Chinese Journal of Blood Transfusion 2025;38(5):615-620
Objective: To establish a database of CD36 antigen-negative donors through large-scale screening of apheresis platelet donors in Shenzhen for CD36 deficiency subtypes and blood group distribution, and to assess clinical demand and blood supply capacity through a retrospective analysis of the apheresis platelet donation volumes from 2019 to 2023. Methods: Flow cytometry with fluorescent CD36 monoclonal antibodies was employed to screen platelet/monocyte CD36 deficiency (Type I and Ⅱ), and statistical analyses were conducted using SPSS software (version 27.0). Results: Among 11 603 apheresis platelet donors, 248 (2.14%) exhibited CD36 deficiency, comprising 51 type Ⅰ (0.43%, 51/11, 603) and 197 type Ⅱ (1.70%, 197/11, 603) cases, with significant difference (P<0.001). CD36 deficient platelets were mainly distributed in blood group B (2.28%, 902.3/39 602.1) and AB (2.14, 269/12 544.5), significantly exceeding those in blood group A (1.43%, 667/46 508.4) and O (1.64%, 1 000/60 965.6) (P<0.001). The proportion of donors with 10-100 U from CD36 deficient donors was the highest (51%, 1 446.4/2 838.3). Conclusion: Sustained screening for CD36-deficient donors is recommended to meet the clinical transfusion needs for immunized patients and those requiring antigen-negative products. Regional resource-sharing mechanisms should be optimized to maximize utilization of CD36-deficient platelet inventories.
7.Evaluation of pediatric adenoid hypertrophy based on CBCT and lateral cephalograms with multiple regression analysis
Bo DUAN ; Xuan LI ; Chen LIN ; Yue HUANG ; Wenxia CHEN
Chinese Journal of Otorhinolaryngology Head and Neck Surgery 2025;60(9):1134-1140
Objective:To investigate the correlations and regression models among adenoid-nasopharynx measurement indices (the linear ratio A/N, the two-dimensional area ratio 2D_A/N, and the three-dimensional volume ratio 3D_A/N), to evaluate the feasibility of predicting three-dimensional parameters from two-dimensional measurements.Methods:This cross-sectional study analysed 4 307 CBCT scans and lateral nasopharyngeal radiographs from 4-12-year-old children (July 2023-January 2025). Children with acute infection, major systemic disease, craniofacial anomalies, prior maxillofacial surgery, poor-quality images, or no consent were excluded. 3D_A/N was defined as adenoid volume/(adenoid+airway volume); 2D_A/N as adenoid area/total area; and linear A/N as adenoid thickness/nasopharyngeal thickness. Pearson correlation and multiple linear regression were used to quantify 2D-to-3D agreement, and independent-sample t-tests were employed to compare age, sex and seasonal subgroups. Results:(1) Significant sex-related differences in adenoid hypertrophy were detected at ages 5, 8, 9 and 11 years. In the 5-year-old group, females had significantly higher 3D_A/N and 2D_A/N values than males (3D_A/N: 0.76±0.10 vs. 0.74±0.10, t=-1.99, P=0.047; 2D_A/N: 0.66±0.10 vs. 0.64±0.09, t=-2.71, P=0.007). In the 8-year-old group, males exhibited significantly higher A/N and 3D_A/N values than females (A/N: 0.64±0.06 vs. 0.63±0.06, t=4.49, P<0.001; 3D_A/N: 0.66±0.12 vs. 0.64±0.12, t=2.00, P=0.046). In the 9-year-old group, males showed significantly higher 3D_A/N values than females (0.65±0.11 vs. 0.63±0.12, t=2.46, P=0.014). In the 11-year-old group, males had significantly higher A/N values than females (0.62±0.06 vs. 0.59±0.05, t=4.79, P<0.001). (2) The linear A/N ratio correlated moderately with 3D_A/N ( r=0.82), whereas, 2D_A/N showed an excellent correlation ( r=0.97); multiple regression confirmed 2D_A/N as the principal predictor of 3D_A/N. (3) Seasonal analysis revealed markedly greater adenoid hypertrophy in winter than in summer for children aged 4-9 years, while, no seasonal difference was found in the 10-12 year group; overall, winter hypertrophy was most pronounced in younger children. Conclusion:2D_A/N demonstrates a marked advantage in predicting 3D_A/N. When combined with A/N and age factors, it can effectively model changes in the 3D volume ratio of the adenoid, underscoring the clinical value of lateral cephalometric measurements for evaluating adenoid hypertrophy in children. Moreover, adenoid hypertrophy is influenced by age, sex and seasonal factors.
8.Construction of an evaluation scale for non-alcoholic fatty liver disease with internal retention of dampness and turbidity based on the method of combining disease and syndrome
Cheng ZHOU ; Jinqiu YANG ; Tong LIU ; Shanzheng LI ; Tong LIU ; Wenxia ZHAO
Journal of Clinical Hepatology 2025;41(4):650-660
ObjectiveTo develop a scale for evaluating the syndrome of internal retention of dampness and turbidity in nonalcoholic fatty liver disease (NAFLD) that combines disease and syndrome and has the characteristics of traditional Chinese medicine (TCM). MethodsAn item pool was established for evaluating the syndrome of internal retention of dampness and turbidity in nonalcoholic fatty liver disease (NAFLD) with reference to the guideline for developing international scales. A clinical survey was conducted among the outpatients and inpatients who were diagnosed with NAFLD and had the syndrome of internal retention of dampness and turbidity in Department of Hepatology and Spleen-Stomach, The First Affiliated Hospital of Henan University of Chinese Medicine, from June to August, 2023, and the items were screened based on the classical test theory and the item response theory. An expert questionnaire was developed, and expert discussions were conducted using the Delphi method to identify the items for evaluating the syndrome of internal retention of dampness and turbidity in NAFLD. Finally, the scale was given scientific scores. ResultsA preliminary item pool was established, with 16 primary items and 22 secondary items, and it was divided into the two dimensions of disease and syndrome type. Clinical pre-survey suggested to retain 9 primary items and 14 secondary items, while the Delphi expert questionnaire recommended to retain 11 primary items and 15 secondary items, and tongue manifestation and pulse manifestation were no longer used for assessing the severity of syndrome. After hierarchical analysis and scientific assignment of scores, the scale for evaluating the syndrome of internal retention of dampness and turbidity in NAFLD had a total score of 123 points and 9 important items, i.e., discomfort in the hypochondrium, abdominal fullness and distension, obesity, heaviness of the head and body, loose stool, anorexia, coughing up phlegm, nausea with a tendency to vomit, and lethargy. ConclusionA preliminary scale is established for evaluating the syndrome of internal retention of dampness and turbidity in NAFLD, which fills the gap in this research field and provides a basis for further clinical application.
9.Rapid Identification and Odor Difference Markers of Abutili Semen before and after Stir-Frying Based on Heracles NEO Ul-tra-Fast Gas-Phase Electronic Nose
Wei WEI ; Jiacheng LI ; Lujie LU ; Wenjian LIU ; Yijie QIAN ; Wenxia PI ; Chunqin MAO ; Tulin LU
Journal of Nanjing University of Traditional Chinese Medicine 2025;41(5):661-667
OBJECTIVE Based on the Heracles NEO ultra-fast gas phase electronic nose,to analyze the odor composition of Abutili Semen before and after stir-frying,and to establish an effective and rapid identification method of raw and stir-frying Abutili Se-men based on odor.METHODS The decoction pieces of Abutili Semen were prepared by stir-frying method.An ultra-fast gas-phase electronic nose method was established for the detection of Abutili Semen before and after stir-frying,the odor spectrum was col-lected,and the possible odor components and chromatographic peak areas were obtained in combination with the AroChemBase data-base,and analyzed by chemometric model.RESULTS The odor fingerprints of Abutili Semen before and after stir-frying were estab-lished,and 19 odor peaks were matched between Abutili Semen decoction pieces and stir-fried Abutili Semen.The peak areas of 7 odor components,hexanal,2-furanmethanol,2-methyl-2-propanol,2-methylbutanal,3-methylbutanal,2-methylpropanal,2,3,5-trim-ethylpyrazine,all increased after stir-frying,and the VIP values of the peaks were greater than 1(P<0.05),which were presumed to be the markers for the differences in the odors of Abutili Semen before and after stir-frying.CONCLUSION The Heracles NEO ul-tra-fast gas phase electronic nose can quickly identify the odor components of Abutili Semen before and after frying,which can provide new ideas and methods for quality control of Abutili Semen.
10.Analysis of clinical phenotype and gene variation of a child with neurodevelopmental disorder caused by homozygous variation of TRAPPC6B gene
Wenxia LI ; Yuke LI ; Baiyun CHEN ; Weimeng LI ; Xiaoman ZHANG ; Linfei LI ; Qing SHANG
Chinese Journal of Medical Genetics 2025;42(2):170-174
Objective:To explore the clinical phenotype and genetic characteristics of a child with neurodevelopmental disorder caused by homozygous frameshift variant of the TRAPPC6B gene, and to provide reference for the diagnosis of the disease. Methods:A child with neurodevelopmental disorder caused by homozygous variant of TRAPPC6B gene who was admitted to the Children′s Hospital Affiliated to Zhengzhou University in March 2023 due to " inability to stand and walk independently at 1 year and 3 months old" was selected as the study object. The clinical data were collected by retrospective analysis method. Target region high-throughput sequencing was carried out on the child and parental peripheral blood samples, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. The pathogenicity of variant was rated according to the Standards and Guidelines for the Interpretation of Sequence Variants released by American College of Medical Genetics and Genomics (ACMG) (hereinafter referred to as ACMG guidelines). The study has been approved by the Medical Ethics Committee of the Children′s Hospital Affiliated to Zhengzhou University (Ethics No.2022-K-L025). Results:The child was a 1-year-and-3-months-old boy whose parents were sib mating. The child presented with global developmental delay, microcephaly and short stature. MRI showed poor white matter myelination, abnormal signals of bilateral periventricular white matter and bilateral external sac, thin corpus callosum, and widening of the third ventricle. Genetic testing revealed that the TRAPPC6B gene of the child had a homozygous variant of c. 240_241delAA (p.Q80Hfs*34), which was inherited from his parents. According to the ACMG guidelines, this variant was judged to be potentially pathogenic (PVS1_Strong+ PM2_Supporting+ PM3_Supporting), resulting in premature occurrence of terminator codons and a change in the three-dimensional structure of protein. The variant was located in the functional domain, which may directly affect the functional domain of the protein, resulting in functional domain defects. Conclusion:The frameshift variation of TRAPPC6B gene c. 240_241delAA (p.Q80Hfs*34) has not been reported, which may be the genetic cause of neurodevelopmental disorders in child in this study. These findings expand the variation spectrum of TRAPPC6B gene and provid basis for genetic counseling and prenatal diagnosis of this family.

Result Analysis
Print
Save
E-mail