1.Efficacy analysis of Epley procedure and Semont procedure with different lateral lying angles of the head in posterior semicircular canal BPPV.
Hui ZHANG ; Jiajia HU ; Meng WANG ; Lihong ZHAI ; Xinyu LYU ; Zhanguo JIN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(4):357-361
Objective:To investigate the effects of the Epley and Semont procedures with varying lateral angles of the head on posterior semicircular canal benign paroxysmal positional vertigo (PC-BPPV). Methods:A total of 115 patients with unilateral PC-BPPV were randomly divided into five groups: Epley group, Semont group, Semont+10° group, Semont+20° group, and Semont+30° group, with 23 patients in each group. Corresponding reduction treatments were performed. Results:The total effective rates for the Epley group, Semont group, Semont+10° group, Semont+20° group, and Semont+30° group were 95.7% (22/23), 4.3% (1/23), 30.4% (7/23), 52.2% (12/23), and 87.0% (20/23) respectively. The inefficiencies were 4.3% (1/23), 95.7% (22/23), 69.6% (16/23), 47.8% (11/23), and 13.0% (3/23). Statistically significant differences were observed in the total effective rates among the five groups (χ²=54.11, P<0.01). The total effective rates in the Semont group, Semont+10° group, and Semont+20° group were significantly different from that of the Epley group (P<0.01), while no statistically significant difference was found between the Semont+30° group and the Epley group (P= 0.608>0.012 5). Conclusion:Among the four Semont methods with different lateral lying angles, the total effective rate of reduction treatment increased with the elevation of the lateral lying angle on the affected side. The efficacy of the Semont+30° group in treating PC-BPPV was not significantly different from the Epley group's reduction effect, which was markedly superior to that of the other four Semont methods at different angles. Therefore, the Semont+30° reduction technique is recommended for the treatment of PC-BPPV.
Adult
;
Aged
;
Female
;
Humans
;
Male
;
Middle Aged
;
Benign Paroxysmal Positional Vertigo/therapy*
;
Head
;
Posture
;
Semicircular Canals/physiopathology*
;
Treatment Outcome
2.Correlation between the Observer's Assessment of Alertness/Sedation score and bispectral index in patients receiving propofol titration during general anesthesia induction.
Lihong CHEN ; Huilin XIE ; Xia HUANG ; Tongfeng LUO ; Jing GUO ; Chunmeng LIN ; Xueyan LIU ; Lishuo SHI ; Sanqing JIN
Journal of Southern Medical University 2025;45(1):52-58
OBJECTIVES:
To explore the relationship between the Observer's Assessment of Alertness/Sedation (OAAS) score and the bispectral index (BIS) during propofol titration for general anesthesia induction and analyze the impact of BIS monitoring delay on anesthetic depth assessment.
METHODS:
This study was conducted among 90 patients (ASA class I-II) undergoing elective surgery under general anesthesia. For anesthesia induction, the patients received propofol titration at the rate of 0.5 mg·kg-1·min-1 till OAAS scores of 4, 3, 2, and 1 were reached. After achieving an OAAS score of 1, remifentanil (2 μg·kg⁻¹) and rocuronium (0.6 mg·kg⁻¹) were administered, and tracheal intubation was performed 2 min later. BIS values, mean arterial pressure (MAP), heart rate (HR), and propofol dosage at each OAAS score were recorded, and the correlation between OAAS scores and BIS values was analyzed. The diagnostic performance of BIS values for determining when the OAAS score reaches 1 was analyzed using ROC curve.
RESULTS:
All the patients successfully completed tracheal intubation. BIS values of the patients at each of the OAAS scores differed significantly (P<0.01), and the mean BIS value decreased by 4.08, 8.32, 5.43 and 5.24 as the OAAS score decreased from 5 to 4, from 4 to 3, from 3 to 2, and from 2 to 1, respectively. There was a significant correlation between the OAAS score and BIS values (ρ=0.775, P<0.001). The median BIS value for an OAAS score of 1 was 76, at which point 83.33% of the patients had BIS values exceeding 60. ROC curve analysis showed that for determining an OAAS score of 1, BIS value, at the optimal cutoff value of 84, had a sensitivity of 88.9%, a specificity of 73.3%, and an area under the curve of 0.842 (0.803-0.881).
CONCLUSIONS
OAAS score during induction of general anesthesia is strongly correlated with BIS value and is a highly sensitive and timely indicator to compensate for the delay in BIS monitoring.
Humans
;
Propofol/administration & dosage*
;
Male
;
Female
;
Middle Aged
;
Anesthesia, General/methods*
;
Adult
;
Consciousness Monitors
;
Aged
;
Young Adult
;
Monitoring, Intraoperative/methods*
;
Electroencephalography
3.Intubaiton with electromyographic endotracheal tube increases risks of postoperative sore throat following thyroidectomy under general anesthesia: a retrospective cohort study.
Lihong CHEN ; Yafen CHEN ; Huilin XIE ; Yancheng HUANG ; Yabin HUANG ; Sanqing JIN
Journal of Southern Medical University 2025;45(11):2511-2517
OBJECTIVES:
To investigate the effect of intubation with electromyographic (EMG) endotracheal tubes versus conventional wire-reinforced (CWR) tubes on the incidence of postoperative sore throat (POST) in patients undergoing thyroidectomy under general anesthesia and identify the risk factors for POST.
METHODS:
We retrospectively collected the clinical data from a cohort of 245 patients undergoing elective thyroid surgery under general anesthesia at the Sixth Affiliated Hospital of Sun Yat-sen University between October, 2024 and March, 2025. Patients received intubation with either EMG endotracheal tubes (n=100) or CWR tubes (n=145) during the operation, and the incidences of POST and other postoperative complications were compared between the two groups. Propensity score matching (PSM) was applied to adjust for the baseline differences, and multivariate logistic regression analysis was used to identify independent risk factors for POST.
RESULTS:
Comparisons of the baseline data revealed significant differences between the two groups (P<0.05). After PSM, 90 patients in EMG group and 75 in CWR group were included in the final analysis with matching baseline characteristics (P>0.05). Post-matching analysis showed that the EMG group had a shorter operative time (P=0.002) but a higher incidence of POST (P=0.001). Multivariate logistic regression identified the use of EMG tubes (OR=17.50, 95% CI: 2.25-136.03, P<0.01) as an independent risk factor for POST.
CONCLUSIONS
Intubation with EMG endotracheal tubes can shorten the operative time and allow recurrent laryngeal nerve monitoring during thyroidectomy under general anesthesia, but their structural design may increase the risk of POST. Clinical decisions should be made to balance nerve protection and postoperative patient comfort by selecting appropriate tube types and optimizing intubation strategies to enhance perioperative outcomes.
Humans
;
Retrospective Studies
;
Intubation, Intratracheal/instrumentation*
;
Thyroidectomy/adverse effects*
;
Anesthesia, General
;
Postoperative Complications/epidemiology*
;
Pharyngitis/epidemiology*
;
Electromyography
;
Risk Factors
;
Female
;
Male
;
Middle Aged
;
Adult
;
Incidence
4.Expert consensus on apical microsurgery.
Hanguo WANG ; Xin XU ; Zhuan BIAN ; Jingping LIANG ; Zhi CHEN ; Benxiang HOU ; Lihong QIU ; Wenxia CHEN ; Xi WEI ; Kaijin HU ; Qintao WANG ; Zuhua WANG ; Jiyao LI ; Dingming HUANG ; Xiaoyan WANG ; Zhengwei HUANG ; Liuyan MENG ; Chen ZHANG ; Fangfang XIE ; Di YANG ; Jinhua YU ; Jin ZHAO ; Yihuai PAN ; Shuang PAN ; Deqin YANG ; Weidong NIU ; Qi ZHANG ; Shuli DENG ; Jingzhi MA ; Xiuping MENG ; Jian YANG ; Jiayuan WU ; Yi DU ; Junqi LING ; Lin YUE ; Xuedong ZHOU ; Qing YU
International Journal of Oral Science 2025;17(1):2-2
Apical microsurgery is accurate and minimally invasive, produces few complications, and has a success rate of more than 90%. However, due to the lack of awareness and understanding of apical microsurgery by dental general practitioners and even endodontists, many clinical problems remain to be overcome. The consensus has gathered well-known domestic experts to hold a series of special discussions and reached the consensus. This document specifies the indications, contraindications, preoperative preparations, operational procedures, complication prevention measures, and efficacy evaluation of apical microsurgery and is applicable to dentists who perform apical microsurgery after systematic training.
Microsurgery/standards*
;
Humans
;
Apicoectomy
;
Contraindications, Procedure
;
Tooth Apex/diagnostic imaging*
;
Postoperative Complications/prevention & control*
;
Consensus
;
Treatment Outcome
5.Expert consensus on pulpotomy in the management of mature permanent teeth with pulpitis.
Lu ZHANG ; Chen LIN ; Zhuo CHEN ; Lin YUE ; Qing YU ; Benxiang HOU ; Junqi LING ; Jingping LIANG ; Xi WEI ; Wenxia CHEN ; Lihong QIU ; Jiyao LI ; Yumei NIU ; Zhengmei LIN ; Lei CHENG ; Wenxi HE ; Xiaoyan WANG ; Dingming HUANG ; Zhengwei HUANG ; Weidong NIU ; Qi ZHANG ; Chen ZHANG ; Deqin YANG ; Jinhua YU ; Jin ZHAO ; Yihuai PAN ; Jingzhi MA ; Shuli DENG ; Xiaoli XIE ; Xiuping MENG ; Jian YANG ; Xuedong ZHOU ; Zhi CHEN
International Journal of Oral Science 2025;17(1):4-4
Pulpotomy, which belongs to vital pulp therapy, has become a strategy for managing pulpitis in recent decades. This minimally invasive treatment reflects the recognition of preserving healthy dental pulp and optimizing long-term patient-centered outcomes. Pulpotomy is categorized into partial pulpotomy (PP), the removal of a partial segment of the coronal pulp tissue, and full pulpotomy (FP), the removal of whole coronal pulp, which is followed by applying the biomaterials onto the remaining pulp tissue and ultimately restoring the tooth. Procedural decisions for the amount of pulp tissue removal or retention depend on the diagnostic of pulp vitality, the overall treatment plan, the patient's general health status, and pulp inflammation reassessment during operation. This statement represents the consensus of an expert committee convened by the Society of Cariology and Endodontics, Chinese Stomatological Association. It addresses the current evidence to support the application of pulpotomy as a potential alternative to root canal treatment (RCT) on mature permanent teeth with pulpitis from a biological basis, the development of capping biomaterial, and the diagnostic considerations to evidence-based medicine. This expert statement intends to provide a clinical protocol of pulpotomy, which facilitates practitioners in choosing the optimal procedure and increasing their confidence in this rapidly evolving field.
Humans
;
Calcium Compounds/therapeutic use*
;
Consensus
;
Dental Pulp
;
Dentition, Permanent
;
Oxides/therapeutic use*
;
Pulpitis/therapy*
;
Pulpotomy/standards*
6.Expert consensus on intentional tooth replantation.
Zhengmei LIN ; Dingming HUANG ; Shuheng HUANG ; Zhi CHEN ; Qing YU ; Benxiang HOU ; Lihong QIU ; Wenxia CHEN ; Jiyao LI ; Xiaoyan WANG ; Zhengwei HUANG ; Jinhua YU ; Jin ZHAO ; Yihuai PAN ; Shuang PAN ; Deqin YANG ; Weidong NIU ; Qi ZHANG ; Shuli DENG ; Jingzhi MA ; Xiuping MENG ; Jian YANG ; Jiayuan WU ; Lan ZHANG ; Jin ZHANG ; Xiaoli XIE ; Jinpu CHU ; Kehua QUE ; Xuejun GE ; Xiaojing HUANG ; Zhe MA ; Lin YUE ; Xuedong ZHOU ; Junqi LING
International Journal of Oral Science 2025;17(1):16-16
Intentional tooth replantation (ITR) is an advanced treatment modality and the procedure of last resort for preserving teeth with inaccessible endodontic or resorptive lesions. ITR is defined as the deliberate extraction of a tooth; evaluation of the root surface, endodontic manipulation, and repair; and placement of the tooth back into its original socket. Case reports, case series, cohort studies, and randomized controlled trials have demonstrated the efficacy of ITR in the retention of natural teeth that are untreatable or difficult to manage with root canal treatment or endodontic microsurgery. However, variations in clinical protocols for ITR exist due to the empirical nature of the original protocols and rapid advancements in the field of oral biology and dental materials. This heterogeneity in protocols may cause confusion among dental practitioners; therefore, guidelines and considerations for ITR should be explicated. This expert consensus discusses the biological foundation of ITR, the available clinical protocols and current status of ITR in treating teeth with refractory apical periodontitis or anatomical aberration, and the main complications of this treatment, aiming to refine the clinical management of ITR in accordance with the progress of basic research and clinical studies; the findings suggest that ITR may become a more consistent evidence-based option in dental treatment.
Humans
;
Tooth Replantation/methods*
;
Consensus
;
Periapical Periodontitis/surgery*
7.Expert consensus on the diagnosis and treatment of cemental tear.
Ye LIANG ; Hongrui LIU ; Chengjia XIE ; Yang YU ; Jinlong SHAO ; Chunxu LV ; Wenyan KANG ; Fuhua YAN ; Yaping PAN ; Faming CHEN ; Yan XU ; Zuomin WANG ; Yao SUN ; Ang LI ; Lili CHEN ; Qingxian LUAN ; Chuanjiang ZHAO ; Zhengguo CAO ; Yi LIU ; Jiang SUN ; Zhongchen SONG ; Lei ZHAO ; Li LIN ; Peihui DING ; Weilian SUN ; Jun WANG ; Jiang LIN ; Guangxun ZHU ; Qi ZHANG ; Lijun LUO ; Jiayin DENG ; Yihuai PAN ; Jin ZHAO ; Aimei SONG ; Hongmei GUO ; Jin ZHANG ; Pingping CUI ; Song GE ; Rui ZHANG ; Xiuyun REN ; Shengbin HUANG ; Xi WEI ; Lihong QIU ; Jing DENG ; Keqing PAN ; Dandan MA ; Hongyu ZHAO ; Dong CHEN ; Liangjun ZHONG ; Gang DING ; Wu CHEN ; Quanchen XU ; Xiaoyu SUN ; Lingqian DU ; Ling LI ; Yijia WANG ; Xiaoyuan LI ; Qiang CHEN ; Hui WANG ; Zheng ZHANG ; Mengmeng LIU ; Chengfei ZHANG ; Xuedong ZHOU ; Shaohua GE
International Journal of Oral Science 2025;17(1):61-61
Cemental tear is a rare and indetectable condition unless obvious clinical signs present with the involvement of surrounding periodontal and periapical tissues. Due to its clinical manifestations similar to common dental issues, such as vertical root fracture, primary endodontic diseases, and periodontal diseases, as well as the low awareness of cemental tear for clinicians, misdiagnosis often occurs. The critical principle for cemental tear treatment is to remove torn fragments, and overlooking fragments leads to futile therapy, which could deteriorate the conditions of the affected teeth. Therefore, accurate diagnosis and subsequent appropriate interventions are vital for managing cemental tear. Novel diagnostic tools, including cone-beam computed tomography (CBCT), microscopes, and enamel matrix derivatives, have improved early detection and management, enhancing tooth retention. The implementation of standardized diagnostic criteria and treatment protocols, combined with improved clinical awareness among dental professionals, serves to mitigate risks of diagnostic errors and suboptimal therapeutic interventions. This expert consensus reviewed the epidemiology, pathogenesis, potential predisposing factors, clinical manifestations, diagnosis, differential diagnosis, treatment, and prognosis of cemental tear, aiming to provide a clinical guideline and facilitate clinicians to have a better understanding of cemental tear.
Humans
;
Dental Cementum/injuries*
;
Consensus
;
Diagnosis, Differential
;
Cone-Beam Computed Tomography
;
Tooth Fractures/therapy*
8.Analysis of a Chinese pedigree affected with hereditary factor Ⅶ deficiency due to compound heterozygous variants of F7 gene.
Fei XU ; Anqing ZOU ; Haixiao XIE ; Fengjiao WANG ; Lihong YANG ; Mingshan WANG ; Yanhui JIN
Chinese Journal of Medical Genetics 2025;42(10):1265-1271
OBJECTIVE:
To investigate the molecular pathogenic mechanisms of a family with hereditary factor Ⅶ (FⅦ) deficiency.
METHODS:
A family (3 generations, 12 members) with hereditary FⅦ deficiency, in which the proband presented with menorrhagia and was admitted to the First Affiliated Hospital of Wenzhou Medical University in April 2023, was selected as the study subject. Clinical data of the family members were collected. Peripheral venous blood samples were collected from all 12 members for routine coagulation tests and genomic DNA extraction. All exons and flanking sequences of the F7 gene were amplified by PCR and analyzed by Sanger sequencing. Thrombin generation assay was performed to evaluate the coagulation potential of the proband and her parents. Multiple online bioinformatics software tools were used to analyze the conservation and pathogenicity of candidate variants identified in the proband. The pathogenicity of variant was classified 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). Homology modeling of the variant FⅦ protein was performed using homology modeling (SWISS-MODEL). Amino acid sequence alignment between wild-type and variant FⅦ proteins was conducted using MEGA v7, and spatial conformational differences were analyzed using PyMOL to assess the potential impact of the F7 gene variants on the structure and function of the FⅦ protein. This study was approved by the Ethics Committee of the First Affiliated Hospital of Wenzhou Medical University (Ethics No.: KY2022-R193).
RESULTS:
Coagulation tests showed that the proband's prothrombin time (PT) was significantly prolonged to 33.1 s, and both factor Ⅶ activity (FⅦ:C) and antigen (FⅦ:Ag) levels were reduced to 2%. Her parents, eldest sister, second sister, younger brother, and four children all showed mildly prolonged PT, with FⅦ:C and FⅦ:Ag levels approximately 50% of normal. Genetic sequencing identified compound heterozygous variants in the F7 gene of the proband: a heterozygous missense variant c.722C>A (p.Thr241Asn) in exon 7, and a heterozygous deletion variant c.1261_1261delA (p.Ile421Ser*fs75) in exon 8. Retrieval from domestic and international databases found no previous reports of the latter variant, suggesting it is novel. Familial co-segregation analysis confirmed that these variants were inherited from her father and mother, respectively. The thrombin generation assay demonstrated that the proband had a significantly decreased peak thrombin height (peak ratio: 29.5%), significantly increased thrombin lag time ratio and time-to-peak ratio (3.03 and 2.93, respectively), but only a mildly decreased endogenous thrombin potential (ETP) ratio of 90.7%. Online bioinformatics analysis indicated that threonine-241 (p.Thr241) in the FⅦ protein was not conserved, while isoleucine-421 (p.Ile421) was highly conserved. Both the p.Thr241Asn and p.Ile421Serfs*75 variant sites in the proband's F7 gene were predicted to be pathogenic. According to the ACMG guidelines, the p.Thr241Asn (PM3+PP1+PP3+PP4+PP5) and p.Ile421Ser*fs75 (PM2+PM4 +PP1+PP3+PP4) variants were both classified as "likely pathogenic". Structural analysis of the FⅦ protein indicated that the p.Ile421Ser*fs75 frameshift variant led to the substitution of Cysteine-428 by Alanine, preventing the formation of a critical disulfide bond between amino acid residues 400 and 428 present in the wild-type FVII protein.
CONCLUSION
The compound heterozygous variants p.Thr241Asn and p.Ile421Ser*fs75 in the F7 gene are likely the genetic etiology responsible for the reduced FⅦ levels in this hereditary FⅦ deficiency family.
Adult
;
Female
;
Humans
;
Male
;
Middle Aged
;
China
;
Factor VII/chemistry*
;
Factor VII Deficiency/genetics*
;
Heterozygote
;
Mutation
;
Pedigree
;
East Asian People/genetics*
9.Genetic analysis of a family with inheritary coagulation factor Ⅹ deficiency due to compound heterozygous variants p.Phe71Ser and p.Val424Phe.
Shuangnyu LIN ; Bile CHEN ; Zuoting XIE ; Lihong YANG ; Mingshan WANG ; Yanhui JIN
Chinese Journal of Medical Genetics 2025;42(10):1272-1277
OBJECTIVE:
To analyze the phenotype and genotype of a family with hereditary coagulation factor Ⅹ (FⅩ) deficiency and preliminarily explore its molecular pathogenesis.
METHODS:
A hereditary FⅩ deficiency pedigree presented at the First Affiliated Hospital of Wenzhou Medical University on August 13, 2024 was selected as the study subject. Coagulation parameters of the proband and her family members (7 individuals from 3 generations) were measured using a one-stage clotting assay. All of the 8 exons and flanking sequences of the F10 gene were amplified by PCR and directly sequenced. Bioinformatics software was used to analyze the functional impact and pathogenicity of the variant proteins, as well as the spatial conformational changes and evolutionary conservation of the mutation sites. This study has been approved by the Medical Ethics Committee of the First Affiliated Hospital of Wenzhou Medical University (Ethics No.: KY2022-R193).
RESULTS:
The proband exhibited significantly abnormal prothrombin time (PT, 33.3 s), activated partial thromboplastin time (APTT, 47.7 s), and FⅩ activity (FⅩ:C, 3%), while other coagulation parameters remained normal. The plasma thromboplastin generation test (PTGT) demonstrated that the proband and her children had lower thromboplastin generation levels compared with the healthy control group, and the proband's thromboplastin generation capacity was more severely impaired. Genetic analysis revealed that the proband, her daughter, and grandson have all harbored a heterozygous missense variant c.212T>C (p.Phe71Ser) in exon 2 of the F10 gene, which was located in the β-sheet core region of the Gla domain. The variant has altered surrounding hydrogen bonds and disrupted calcium-binding sites. Additionally, the proband, her son, and granddaughter have all carried a heterozygous missense variant c.1270G>T (p.Val424Phe) in exon 8, which increased the side-chain volume, leading to steric hindrance in the catalytic domain and impaired coagulation function. Bioinformatics analysis confirmed that both p.Phe71Ser and p.Val424Phe were pathogenic variants, with Phe71 and Val424 being highly conserved residues.
CONCLUSION
The reduced FⅩ levels in this hereditary FⅩ-deficient family may be attributed to the heterozygous missense variants c.212T>C (p.Phe71Ser) in the exon 2 and c.1270G>T (p.Val424Phe) in the exon 8 of the F10 gene.
Humans
;
Female
;
Male
;
Pedigree
;
Adult
;
Heterozygote
;
Mutation
;
Middle Aged
;
Factor X/genetics*
;
Exons
;
Factor X Deficiency/genetics*
10.Molecular pathogenesis of a novel p.Cys467Tyr missense variant underlying Hereditary factor Ⅻ deficiency.
Langyi QIN ; Yanhui JIN ; Yaosheng XIE ; Fengjiao WANG ; Lihong YANG ; Haixiao XIE ; Mingshan WANG ; Meina LIU
Chinese Journal of Medical Genetics 2025;42(12):1424-1430
OBJECTIVE:
To investigate the molecular mechanism for a family with Hereditary coagulation factor Ⅻ (FⅫ) deficiency.
METHODS:
The proband, a 63-year-old female, was admitted to the First Affiliated Hospital of Wenzhou Medical University in August 2024 for lumbar disc herniation. Coagulation tests, including prothrombin time (PT), activated partial thromboplastin time (APTT), and FⅫ activity (FⅫ:C), were carried out for the proband and her family members (9 individuals from three generations) using a one-stage clotting assay. The level of FⅫ antigen (FⅫ:Ag) was determined with an Enzyme-linked immunosorbent assay (ELISA). Sanger sequencing was conducted to identify potential variants in the F12 gene. Multiple in silico tools were used to predict the conservation, hydrophobicity, and structural impact of the identified variants. Recombinant expression plasmids were constructed and transiently transfected into HEK293T cells. The recombinant FⅫ protein was analyzed using Western blotting (WB) and ELISA. This study was approved by the Ethics Committee of the First Affiliated Hospital of Wenzhou Medical University (Ethics No.: KY2022-R193).
RESULTS:
The proband showed a markedly prolonged APTT (160.3 s) and significantly decreased FⅫ:C (2%) and FⅫ:Ag (5%) levels. Analysis of the F12 gene sequence revealed a 46C/T genotype in the promoter region, a heterozygous c.1457G>A (p.Cys467Tyr) missense variant in exon 12, and a heterozygous c.1561G>A (p.Glu502Lys) missense variant in exon 13. Bioinformatic analysis showed that the p.Cys467 is highly conserved across various species, and the p.Cys467Tyr variant may affect local structural stability of the FⅫ protein. The p.Cys467Tyr variant had no effect on the transcription of the F12 gene. However, the variant has significantly decreased the FⅫ:Ag levels and FⅫ protein expression in the cell culture supernatant compared to the wild-type expression vector, while in the cell lysate, it is higher than the wild-type expression vector. In other words, the p.Cys467Tyr variant has probably caused a secretion defect of FⅫ protein.
CONCLUSION
The 46C/T genotype, the heterozygous p.Cys467Tyr missense variant, and the heterozygous p.Glu502Lys missense variant are associated with reduced plasma FⅫ levels in this pedigree. The p.Cys467Tyr variant, which was unreported previously, did not affect the synthesis of FⅫ but may have resulted in a secretion defect.
Humans
;
Female
;
Middle Aged
;
Mutation, Missense
;
Pedigree
;
HEK293 Cells
;
Male
;
Factor XII/genetics*
;
Adult
;
Factor XII Deficiency/genetics*

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