1.Risk factors for open gingival embrasures in the mandibular central incisor region among adult non-extraction patients treated with clear aligner therapy
WEI Xiaojiao ; HAN Shuang ; TANG Chenxin ; ZHANG Hao
Journal of Prevention and Treatment for Stomatological Diseases 2026;34(1):54-64
Objective:
To investigate the incidence and risk factors of open gingival embrasures (OGEs) in the incisor region after treatment with clear aligners in adult non-extraction patients and provide a reference for preventing the occurrence of an open gingival wedge gap in the incisal area after orthodontic treatment.
Methods:
This study has been reviewed and approved by the institutional medical ethics committee, and informed consent was obtained from the patients. A total of 125 adult patients with malocclusion who completed clear aligner treatment at Hefei Stomatological Hospital from September 2022 to December 2024 were selected as the study subjects. Based on the presence or absence of OGEs in the incisor region observed in frontal intraoral photographs taken immediately after treatment completion, the patients were divided into a normal group and an OGE group. Clinical data, including intraoral photographs, digital models, and cone-beam computed tomography before and after treatment, were analyzed. Measurements such as incisor overlap and rotation, crown morphology, number of attachments, and interproximal enamel reduction (IPR) were recorded and analyzed.
Results:
The incidence of OGEs between the maxillary and mandibular central incisors after clear aligner treatment in adult patients was 28.8% and 39.2%, respectively. No statistically significant differences were observed between the normal and OGE groups in terms of sex, Angle's classification, gingival biotype, overbite, overjet, IPR amount, age, treatment duration, tooth axis angulation, or horizontal movement distance of mandibular central incisors before and after treatment (P 0.05). However, significant differences were found in the number of attachments, anteroposterior distance between mesial incisal angles, distance from the interproximal contact point (ICP) to the alveolar bone crest (ABC) (ICP-ABC), horizontal distance between mesial cementoenamel junction (CEJ) of two adjacent central incisors (CEJ-CEJ) and labial alveolar bone thickness (P 0.05). IPR amount and mandibular incisor intrusion were significantly associated with the severity of OGEs (P 0.05). Regression analysis revealed that the number of attachments, anteroposterior distance between mesial incisal angles, ICP-ABC distance, and CEJ-CEJ horizontal distance were significantly correlated with the occurrence of OGEs.
Conclusion
The incidence of open gingival embrasures in the mandibular central incisor region is relatively high among adult patients treated with clear aligners. The number of attachments (n = 2), the anteroposterior distance between the mesio-incisal angles, the distance from the tooth contact point to the alveolar bone crest, and the horizontal distance between adjacent cementoenamel junctions have been identified as risk factors for the development of open gingival embrasures upon completion of orthodontic treatment.
2.Screening of Anti-Streptococcus pneumoniae Active Ingredients from Pilea peltata
Zhiying WEI ; Yan HUANG ; Shenggao YIN ; Jie LIANG ; Chengsheng LU ; Fangchan LI ; Yuting XIE ; Yaohua LI ; Xiaojiao PAN
Herald of Medicine 2025;44(5):687-694
Objective To screen the anti-Streptococcus pneumoniae(Spn)active ingredients in vitro from different po-lar parts of Pilea peltata,and to examine the combined antibacterial effect of the active ingredient and amoxicillin(AMX).Methods A 96-well plate microdilution method was used to determine the minimum inhibitory concentration(MIC)of different polar parts;the most active polar part was separated by preparative high-performance liquid chromatography,and the active ingre-dients were identified using spectral technology.The fractional inhibitory concentration(FIC)of active ingredients and AMX was determined by the 96-well plate chessboard microdilution method.The crystal violet method was used to investigate the effect of ac-tive ingredients on Spn biofilm.The effect of active ingredients on the appearance and morphology of Spn was investigated under the electron microscope.Results The MICs of the petroleum ether part,chloroform part,ethyl acetate part,n-butanol part,and water part were 1.000,1.000,0.500,1.000,and 2.000 mg·mL-1 respectively,among which the ethyl acetate part had the stron-gest antibacterial activity.Three compounds were isolated from ethyl acetate,namely 5,7,3',4'-tetramethoxyflavone 1,8-O-(p-coumaroyl)-1(10)E,4(5)E-humuladien-8-ol 2 and 1-O-p-coumaroyl copaborneol 3.These compounds were all isolated for the first time from Pilea peltate,their MICs against Spn were 200.000,50.000,and 25.000 μg·mL-1 respectively,and the compound 3 had the strongest antibacterial activity;the FIC value of AMX and compound 3 was 0.50,which had a synergistic antibacterial effect on Spn.Both AMX and compound 3 had inhibitory effects on Spn biofilm,but the biofilm inhibition rate of compound 3(59.10±1.04%)was significantly lower than AMX(87.38±0.84)%(P<0.01);Moreover,there was no significant difference in biofilm inhibition rate between the combination of the two and AMX(P>0.05).The scanning electron microscope results showed that the bacterial cells in the compound 3 group had a smooth surface but varying degrees of depression.The surface of the bacteri-al cells in the AMX group and the AMX combined compound 3 group showed severe swelling and rupture.Conclusions Fla-vonoids and sesquiterpenoids are both the anti-Spn active components of Pilea peltate.Among them,sesquiterpenoids have more potent antibacterial activity,and their antibacterial action mechanism is related to inhibiting bacterial biofilms.Compound 3 and AMX have a synergistic antibacterial effect on Spn,but its mechanism of action is not by enhancing biofilm inhibition;although compound 3 cannot destroy the cell wall of Spn,it still has a negative impact on the appearance of the bacteria.
3.Mechanism of Buzhong Yiqitang in Repairing Brain Developmental Abnormalities in Offspring of Pregnant Rats with Subclinical Hypothyroidism
Yan MA ; Xiaojiao LYU ; Yangling HUANG ; Xiande MA ; Tianshu GAO ; Peiwei CONG ; Wei CHEN
Chinese Journal of Experimental Traditional Medical Formulae 2025;31(16):24-34
ObjectiveTo evaluate the pharmacological effect of Buzhong Yiqitang on brain development in offspring of rats with subclinical hypothyroidism (SCH) during pregnancy and explore its potential mechanism. MethodsForty-eight SPF female SD rats were divided into sham operation group (n=8) and model group (n=40). The rat model of subclinical hypothyroidism (SCH) was constructed by total thyroidectomy combined with postoperative subcutaneous injection of levothyroxine (L-T4). The modeled rats were randomly allocated into model, low-, medium-, and high-dose (5.58, 11.16, 22.32 g∙kg-1, respectively) Buzhong Yiqitang, and euthyrox (4.5×10-6 g∙kg-1) groups, with 8 rats in each group. These rats were co-housed with normal male rats for mating. Drug administration started 2 weeks before pregnancy and continued until delivery. Hematoxylin-eosin staining and Golgi-cox staining were used to observe pathological changes in the hippocampal tissue of offspring rats. Western blot was employed to detect the effects of Buzhong Yiqitang on the protein levels of cytochrome C oxidase subunitⅠ (COX)Ⅰ and COXⅣ in the hippocampal tissue of offspring rats. A colorimetric method was used to measure the mitochondrial adenosine triphosphate (ATP) content in the hippocampal tissue of offspring rats. For in vitro experiments, a hydrogen peroxide (H2O2)-induced oxidative damage model was established with rat pheochromocytoma cells (PC12). Interventions included the DNA methyltransferase inhibitor (SGI-1027), Buzhong Yiqitang-medicated serum, and euthyrox-medicated serum. The cell counting kit-8 (CCK-8) assay was used to examine the effect of Buzhong Yiqitang on cell proliferation. Immunofluorescence staining was performed to evaluate the effect on tubulin beta 3 class Ⅲ (TUBB3) in PC12 cells. Western blot was employed to assess the effects on the protein levels of DNA methyltransferases (TETs and DNMTs) in PC12 cells. The fluorescent probe 2′,7′-dichlorodihydrofluorescein diacetate (DCFH-DA), luciferase assay, and JC-1 staining were employed to assess the effects of Buzhong Yiqitang on the levels of reactive oxygen species (ROS) and ATP and the mitochondrial membrane potential in PC12 cells. ResultsCompared with the sham group, the model group showed a reduction in the number of hippocampal neurons, incomplete pyramidal cell bodies, loose arrangement, shortened average dendrite length, decreased dendritic complexity and dendritic spine density, and reduced expression levels of COXⅠ and COXⅣ and content of ATP in the brain tissue (P<0.05, P<0.01). Compared with the model group, after administration of Buzhong Yiqitang and euthyrox, hippocampal neurons exhibited regular arrangement, complete morphology, extended dendrite, increased dendritic complexity and dendritic spine density, and restored expression levels of COXⅠ and COXⅣ and content of ATP (P<0.05, P<0.01), with the medium-dose Buzhong Yiqitang group showing the best therapeutic effect. In the PC12 cell model of oxidative damage, Buzhong Yiqitang increased the cell viability (P<0.01), enhanced neuronal differentiation, down-regulated the expression levels of DNMTs (P<0.05), up-regulated the expression levels of TETs (P<0.05), decreased the ROS content (P<0.01), and restored the ATP content and mitochondrial membrane potential (P<0.01). ConclusionBuzhong Yiqitang protects brain development in offspring of pregnant rats with SCH. It mainly acts on the oxidative stress and mitochondrial dysfunction resulted from abnormal mtDNA methylation, with DNMTs and TETs as the key proteins for its effects.
4.Epidemiological and clinical characteristics of infectious diseases of the central nervous system: a national multicenter cross-sectional study
Jiahua ZHAO ; Jun GUO ; Xiaoyan ZHANG ; Wei LI ; Wen HUANG ; Xiaofei ZHU ; Jianxin YE ; Xiaoling WANG ; Juan DU ; Min LI ; Juan DU ; Zegang YIN ; Jinli FENG ; Chaohui WANG ; Xiaowei MAO ; Jing CHEN ; Xiaowei XING ; Yuheng SHAN ; Yuying CEN ; Xiaojiao XU ; Ruishu TAN ; Jiatang ZHANG
Chinese Journal of Neurology 2025;58(5):485-493
Objective:To analyze the epidemiological and clinical features of infectious diseases of the central nervous system (CNS).Methods:A cross-sectional study and analysis were conducted to summarize the epidemiological and clinical characteristics of 9 918 patients with CNS infectious diseases, who were diagnosed and treated at 29 hospitals across China from January 1, 2001 to December 31, 2020. Data collected included demographic data, clinical manifestations, health economic indicators, and prognostic outcomes.Results:Among the 9 918 collected cases of CNS infectious diseases, 5 559 were male (56.0%) and 4 359 were female (44.0%), with an onset age of 38 (25, 53) years. Education level: slightly more junior high school education (2 651 cases, 26.7%), and less elementary school education and below (2 181 cases, 22.0%) were found. Occupational distribution: farmers were found predominant (3 215 cases, 32.4%), followed by workers (1 826 cases, 18.4%) and students (1 633 cases, 16.5%). Clinical manifestations: headache (6 074 cases, 61.2%), fever (5 869 cases, 59.2%) and positive meningeal irritation signs (2 273 cases, 22.9%) were the 3 most common clinical manifestations, followed by nausea and (or) vomiting (2 095 cases, 21.1%), impaired consciousness (2 077 cases, 20.9%), psychiatric symptom (1 866 cases, 18.8%) and epilepsy (1 627 cases, 16.4%), etc., and cranial nerve involvement was found in 669 cases (6.7%). Major pathogens included viruses in 6 814 cases (68.7%), Mycobacterium tuberculosis in 1 677 cases (16.9%), common bacteria in 864 cases (8.7%), fungi in 254 cases (2.6%), spirochetes of syphilis in 183 cases (1.8%), parasites in 121 cases (1.2%), and rickettsiae in 5 cases (0.1%). Urban-rural distribution: slightly more cases were found in the countryside (5 418 cases, 54.6%) than in the towns (4 500 cases, 45.4%). Distribution of onset by season: 2 412 cases (24.3%) fell ill in spring, 2 835 cases (28.6%) in summer, 2 187 cases (22.1%) in fall, and 2 484 cases (25.0%) in winter. Health economics: the duration of hospitalization was 15 (8, 27) days, and the cost of hospitalization was 1.53 (0.91, 3.02)×10 000 yuan. Prognosis: 9 531 cases (96.1%) were cured or improved, and 92 cases (0.9%) died. Conclusions:The pathogens responsible for CNS infectious diseases are predominantly viruses. Although the incidence is slightly higher during the summer months, the overall seasonal pattern is not particularly pronounced. These infections are more commonly observed in young and middle-aged males and present with a diverse range of clinical manifestations, contributing to a significant disease burden.
5.Screening of Anti-Streptococcus pneumoniae Active Ingredients from Pilea peltata
Zhiying WEI ; Yan HUANG ; Shenggao YIN ; Jie LIANG ; Chengsheng LU ; Fangchan LI ; Yuting XIE ; Yaohua LI ; Xiaojiao PAN
Herald of Medicine 2025;44(5):687-694
Objective To screen the anti-Streptococcus pneumoniae(Spn)active ingredients in vitro from different po-lar parts of Pilea peltata,and to examine the combined antibacterial effect of the active ingredient and amoxicillin(AMX).Methods A 96-well plate microdilution method was used to determine the minimum inhibitory concentration(MIC)of different polar parts;the most active polar part was separated by preparative high-performance liquid chromatography,and the active ingre-dients were identified using spectral technology.The fractional inhibitory concentration(FIC)of active ingredients and AMX was determined by the 96-well plate chessboard microdilution method.The crystal violet method was used to investigate the effect of ac-tive ingredients on Spn biofilm.The effect of active ingredients on the appearance and morphology of Spn was investigated under the electron microscope.Results The MICs of the petroleum ether part,chloroform part,ethyl acetate part,n-butanol part,and water part were 1.000,1.000,0.500,1.000,and 2.000 mg·mL-1 respectively,among which the ethyl acetate part had the stron-gest antibacterial activity.Three compounds were isolated from ethyl acetate,namely 5,7,3',4'-tetramethoxyflavone 1,8-O-(p-coumaroyl)-1(10)E,4(5)E-humuladien-8-ol 2 and 1-O-p-coumaroyl copaborneol 3.These compounds were all isolated for the first time from Pilea peltate,their MICs against Spn were 200.000,50.000,and 25.000 μg·mL-1 respectively,and the compound 3 had the strongest antibacterial activity;the FIC value of AMX and compound 3 was 0.50,which had a synergistic antibacterial effect on Spn.Both AMX and compound 3 had inhibitory effects on Spn biofilm,but the biofilm inhibition rate of compound 3(59.10±1.04%)was significantly lower than AMX(87.38±0.84)%(P<0.01);Moreover,there was no significant difference in biofilm inhibition rate between the combination of the two and AMX(P>0.05).The scanning electron microscope results showed that the bacterial cells in the compound 3 group had a smooth surface but varying degrees of depression.The surface of the bacteri-al cells in the AMX group and the AMX combined compound 3 group showed severe swelling and rupture.Conclusions Fla-vonoids and sesquiterpenoids are both the anti-Spn active components of Pilea peltate.Among them,sesquiterpenoids have more potent antibacterial activity,and their antibacterial action mechanism is related to inhibiting bacterial biofilms.Compound 3 and AMX have a synergistic antibacterial effect on Spn,but its mechanism of action is not by enhancing biofilm inhibition;although compound 3 cannot destroy the cell wall of Spn,it still has a negative impact on the appearance of the bacteria.
6.Epidemiological and clinical characteristics of infectious diseases of the central nervous system: a national multicenter cross-sectional study
Jiahua ZHAO ; Jun GUO ; Xiaoyan ZHANG ; Wei LI ; Wen HUANG ; Xiaofei ZHU ; Jianxin YE ; Xiaoling WANG ; Juan DU ; Min LI ; Juan DU ; Zegang YIN ; Jinli FENG ; Chaohui WANG ; Xiaowei MAO ; Jing CHEN ; Xiaowei XING ; Yuheng SHAN ; Yuying CEN ; Xiaojiao XU ; Ruishu TAN ; Jiatang ZHANG
Chinese Journal of Neurology 2025;58(5):485-493
Objective:To analyze the epidemiological and clinical features of infectious diseases of the central nervous system (CNS).Methods:A cross-sectional study and analysis were conducted to summarize the epidemiological and clinical characteristics of 9 918 patients with CNS infectious diseases, who were diagnosed and treated at 29 hospitals across China from January 1, 2001 to December 31, 2020. Data collected included demographic data, clinical manifestations, health economic indicators, and prognostic outcomes.Results:Among the 9 918 collected cases of CNS infectious diseases, 5 559 were male (56.0%) and 4 359 were female (44.0%), with an onset age of 38 (25, 53) years. Education level: slightly more junior high school education (2 651 cases, 26.7%), and less elementary school education and below (2 181 cases, 22.0%) were found. Occupational distribution: farmers were found predominant (3 215 cases, 32.4%), followed by workers (1 826 cases, 18.4%) and students (1 633 cases, 16.5%). Clinical manifestations: headache (6 074 cases, 61.2%), fever (5 869 cases, 59.2%) and positive meningeal irritation signs (2 273 cases, 22.9%) were the 3 most common clinical manifestations, followed by nausea and (or) vomiting (2 095 cases, 21.1%), impaired consciousness (2 077 cases, 20.9%), psychiatric symptom (1 866 cases, 18.8%) and epilepsy (1 627 cases, 16.4%), etc., and cranial nerve involvement was found in 669 cases (6.7%). Major pathogens included viruses in 6 814 cases (68.7%), Mycobacterium tuberculosis in 1 677 cases (16.9%), common bacteria in 864 cases (8.7%), fungi in 254 cases (2.6%), spirochetes of syphilis in 183 cases (1.8%), parasites in 121 cases (1.2%), and rickettsiae in 5 cases (0.1%). Urban-rural distribution: slightly more cases were found in the countryside (5 418 cases, 54.6%) than in the towns (4 500 cases, 45.4%). Distribution of onset by season: 2 412 cases (24.3%) fell ill in spring, 2 835 cases (28.6%) in summer, 2 187 cases (22.1%) in fall, and 2 484 cases (25.0%) in winter. Health economics: the duration of hospitalization was 15 (8, 27) days, and the cost of hospitalization was 1.53 (0.91, 3.02)×10 000 yuan. Prognosis: 9 531 cases (96.1%) were cured or improved, and 92 cases (0.9%) died. Conclusions:The pathogens responsible for CNS infectious diseases are predominantly viruses. Although the incidence is slightly higher during the summer months, the overall seasonal pattern is not particularly pronounced. These infections are more commonly observed in young and middle-aged males and present with a diverse range of clinical manifestations, contributing to a significant disease burden.
7.Soft tissue 3D study of facial changes in 137 adult female patients with different vertical bone facial types before and after orthodontic treatment
Zhanli WANG ; Shuang HAN ; Xiaojiao WEI ; Rongguang GENG ; Hao ZHANG
Acta Universitatis Medicinalis Anhui 2024;59(9):1664-1669
Objective To investigate the difference of facial soft tissue changes in patients with different vertical bone facial types after orthodontic treatment.Methods A total of 137 female patients with class Ⅱ malocclusion aged 18 to 30 years old were selected for retrospective analysis using facial soft tissue 3D model data.According to the mandibular plane angle(FH-MP)angle,they were divided into high angle group,average angle group and low angle group.The EinScan Pro 2X 2020 handheld high-precision 3D scanner was used to capture facial soft tissue images of patients before treatment(T0)and at 6 months during treatment(T1)and after treatment(T2).The patients'facial images were overlapped using reverse engineering software Geomagic Wrap 2021,and the differ-ences within and between groups were statistically analyzed using SPSS 26.0 statistical software.Results Before and after orthodontic treatment,the average overall facial changes in the high angle group were(-3.25±0.22)mm,in the average angle group was(-3.28±0.30)mm,and in the average low angle group was(-3.69±0.36)mm.Compared with the other two groups,the changes in the low angle group decreased more,and the difference was statistically significant(P<0.05).The mandibular angle area and temporal area decreased the most in the low angle group,which were(-2.78±0.18)mm and(-2.27±0.35)mm,respectively,and the differ-ence was statistically significant compared with the other two groups(P<0.05),while there was no statistically significant difference among the other groups(P>0.05).Conclusion The whole face and all facial regions of the three groups had some negative changes,but the collapse in the mandibular angle area and the temporal muscle ar-ea of the low angle group was more obvious than that of the other two groups.
8.Practice of enhanced recovery after surgery reduces postoperative inflammation in patients undergoing laparoscopic gastric cancer surgery
Jingyi WANG ; Jun ZHONG ; Chaogang YANG ; Xiaojiao WANG ; Meng WEI ; Xiaoyan CHEN ; Bilong FENG ; Chunwei PENG
Chinese Journal of General Surgery 2024;39(11):833-838
Objective:To evaluate the application of enhanced recovery after surgery in patients undergoing laparoscopic gastric cancer surgery and its impact on the systemic inflammatory response (SIR).Methods:The clinical data of patients undergoing laparoscopic gastric cancer surgery at the Department of Gastrointestinal Surgery, Zhongnan Hospital, Wuhan University from Mar 2021 to Mar 2023 was retrospectively analyzed.Results:A total of 234 patients with gastric cancer were enrolled (120 cases in ERAS group and 114 cases in routine group). There were no significant differences in preoperative indexes between the two groups (all P>0.05). After laparoscopic surgery, the postoperative ventilation time and hospital stay of patients in ERAS group were significantly shorter than those in the conventional group (all P<0.05). Neutrophil to lymphocyte ratio (NLR) , platelet to lymphocyte ratio (PLR) and systemic immune-inflammatory (SII) index of patients in ERAS group were significantly lower on day 1 and day 3 after surgery than in conventional group (all P<0.05). The ratio of lymphocyte to monocyte (LMR) in ERAS group was significantly higher than that in conventional group on day 1 and day 7 after surgery (all P<0.05). Conclusions:ERAS can improve postoperative SIR indexes in patients undergoing laparoscopic gastric cancer surgery, shorten postoperative recovery time, and enhance the efficacy of laparoscopic gastric cancer surgery by reducing perioperative systemic inflammation.
9.Experience of real-time continuous glucose monitoring for the first time in elderly patients with diabetes: a qualitative study
Xiaoling QU ; Xiaoying ZHANG ; Yuanyuan LI ; Lina WANG ; Yan LIU ; Xiaojiao LI ; Wei ZHANG
Chinese Journal of Modern Nursing 2024;30(2):211-215
Objective:To explore the experience of elderly patients with diabetes after the first use of real-time continuous glucose monitoring (rt-CGM) through qualitative research.Methods:From January to December 2022, 20 elderly patients with diabetes who received rt-CGM in Beijing Friendship Hospital Affiliated to Capital Medical University were selected as the research object with objective sampling. Semi-structured, personalized, one-to-one in-depth interviews were used to collect data. The qualitative research content analysis method was used to summarize interview data, extract and explain the theme.Results:In this interview, a total of five themes were obtained. There were two themes before continuous glucose monitoring, namely high recognition of rt-CGM by patients and the expectation of understanding blood glucose fluctuations, which was the main purpose for patients to receive rt-CGM. After continuous glucose monitoring, there were three themes, namely, the negative emotions caused by abnormal blood glucose alarms during rt-CGM, disagreements among patients regarding the calibration method of measuring finger blood glucose four times a day during rt-CGM, and patients questioning the accuracy of rt-CGM data.Conclusions:Elderly patients with diabetes are willing to receive rt-CGM, but there are still many misunderstandings. Medical and nursing staff should develop targeted nursing strategies from various aspects such as improving patients ' psychological state, enhancing patients ' correct understanding of treatment, and strengthening standardized training for nurses, so as to increase patients ' treatment compliance and effectively control blood glucose.
10.Genetic analysis of a child with DIGFAN syndrome due to variant of MORC2 gene
Bobo XIE ; Xin FAN ; Xianda WEI ; Baoheng GUI ; Xiaojiao WEI ; Yunting MA ; Shihan FENG ; Yujun CHEN
Chinese Journal of Medical Genetics 2024;41(2):234-238
Objective:To explore the clinical features and genetic etiology for a child with developmental delay, impaired growth, facial dysmorphism, and axonal neuropathy (DIGFAN).Methods:A child who was admitted to the Second Affiliated Hospital of Guangxi Medical University on March 22, 2021 was selected the study subject. Clinical data of the child was collected. Following extraction of genomic DNA, the child and his parents were subjected to whole exome sequencing (WES), and candidate variant was verified by Sanger sequencing and bioinformatic analysis.Results:The child, a 10-year-and-9-month-old boy, had manifested with short stature, intellectual disability, delayed speech, motor and language development, and facial dysmorphism. WES and Sanger sequencing revealed that he has harbored a novel de novo c. 800T>C (p.Leu267Pro) variant of the MORC2 gene. The Leucine at position 267, which is highly conserved among various species, is located in the S5 domain of ribosome protein in the ATPase binding region of MORC2. And the Leu267Pro may affect the function of MORC2 by altering the spatial conformation and activity of ATPase. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 800T>C variant was classified as likely pathogenic (PS2+ PM2_Supporting+ PP2+ PP3). Conclusion:The MORC2: c. 800T>C (p.Leu267Pro) variant probably underlay the pathogenesis of DIGFAN syndrome in this child.


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