Pharmacogenomics & Personalized Medicine最新文献

{"title":"Chromosomal Copy Number Variation Predicts EGFR-TKI Response and Prognosis for Patients with Non-Small Cell Lung Cancer.","authors":"Haiyan He,&nbsp;Hang Ma,&nbsp;Zhuo Chen,&nbsp;Jingliang Chen,&nbsp;Dandan Wu,&nbsp;Xuedong Lv,&nbsp;Jie Zhu","doi":"10.2147/PGPM.S418320","DOIUrl":"10.2147/PGPM.S418320","url":null,"abstract":"<p><strong>Purpose: </strong>Chromosomal abnormalities represent genomic signatures linked to cancer prognosis and responses to chemotherapy, immunotherapy, and drug resistance. This study aimed to investigate the impact of chromosome copy number variants (CNVs) on the efficacy of tyrosine kinase inhibitors (TKIs) in EGFR-mutated non-small cell lung cancer (NSCLC) patients, as well as its prognostic implications for progression-free survival (PFS) and overall survival (OS) in EGFR wild-type patients.</p><p><strong>Methods: </strong>A total of 110 patients with advanced NSCLC were enrolled in this study and categorized into EGFR-mutated and wild-type groups. Utilizing next-generation sequencing (NGS) technology, we assessed 24 genes and chromosome CNVs associated with lung cancer pathways in patients' tissue samples.</p><p><strong>Results: </strong>Within the EGFR-mutated group, patients with a gain in Chr 1p13.3-p13.1 exhibited poor TKI responses, a high relapse rate, and shortened PFS (<i>P</i> = 0.002). Conversely, EGFR-mutated patients with a gain in 14q31.1-q31.3 demonstrated favorable TKI responses and relatively extended PFS (<i>P</i> = 0.005). Among EGFR wild-type patients, the presence of 7q31.1-q31.31 CNV emerged as an independent factor influencing both PFS and OS (<i>P</i> = 0.013, <i>P</i> = 0.004). Notably, patients with a gain in 7q31.1-q31.31 exhibited prolonged PFS and OS. Additionally, independent prognostic significance for OS in EGFR wild-type patients was observed for CNVs in 9q21.31-q22.2 and 11p11.11-q12.1 regions (<i>P</i> = 0.001). Patients with gains in these regions experienced extended OS, while losses were predictive of poorer outcomes.</p><p><strong>Conclusion: </strong>Our results suggested that chromosomal copy number variation is a practical indicator for predicting the response of EGFR-targeted therapy and prognosis for NSCLC patients.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"835-846"},"PeriodicalIF":1.9,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/18/c9/pgpm-16-835.PMC10505391.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10313102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Significance of NAT2 Genetic Variations in Type II Diabetes Mellitus and Lipid Regulation.","authors":"Yazun Jarrar,&nbsp;Sara Abudahab,&nbsp;Ghasaq Abdul-Wahab,&nbsp;Dana Zaiter,&nbsp;Abdalla Madani,&nbsp;Sara J Abaalkhail,&nbsp;Dina Abulebdah,&nbsp;Hussam Alhawari,&nbsp;Rami Musleh,&nbsp;Su-Jun Lee","doi":"10.2147/PGPM.S422495","DOIUrl":"10.2147/PGPM.S422495","url":null,"abstract":"<p><strong>Background: </strong>N-acetyltransferase 2 (NAT2) enzyme is a Phase II drug-metabolizing enzyme that metabolizes different compounds. Genetic variations in <i>NAT2</i> can influence the enzyme's activity and potentially lead to the development of certain diseases.</p><p><strong>Aim: </strong>This study aimed to investigate the association of <i>NAT2</i> variants with the risk of Type II diabetes mellitus (T2DM) and the lipid profile among Jordanian patients.</p><p><strong>Methods: </strong>We sequenced the whole protein-coding region in <i>NAT2</i> using Sanger's method among a sample of 45 Jordanian T2DM patients and 50 control subjects. Moreover, we analyzed the lipid profiles of the patients and examined any potential associations with <i>NAT2</i> variants.</p><p><strong>Results: </strong>This study revealed that the heterozygous <i>NAT2*13 C/T</i> genotype is significantly (<i>P</i> = 0.03) more common among T2DM (44%) than non-T2DM subjects (23.5%). Furthermore, the frequency of homozygous <i>NAT2*13 T/T</i> genotype was found to be significantly higher (<i>P</i> = 0.03) among T2DM patients (26.7%) compared to that of non-T2DM subjects (11%). The heterozygous <i>NAT2*7 G/A</i> genotype was exclusively observed in T2DM patients (11.1%) and absent in the control non-T2DM group. Moreover, among T2DM patients, those with a homozygous <i>NAT2*11</i> T/T genotype exhibited significantly higher levels of triglycerides (381.50 ± 9.19 ng/dL) with a <i>P</i> value of 0.01 compared to those with heterozygous <i>NAT2*11</i> C/T (136.23 ± 51.12 ng/dL) or wild-type <i>NAT2*11</i> C/C (193.65 ± 109.89 ng/dL) genotypes. T2DM patients with homozygous <i>NAT2*12</i> G/G genotype had a significantly (<i>P</i> = 0.04) higher triglyceride levels (275.67 ± 183.42 ng/dL) than the heterozygous <i>NAT2*12 A/G</i> (140.02 ± 49.53 ng/dL) and the wild <i>NAT2*12 A/A</i> (193.65 ± 109.89 ng/dL).</p><p><strong>Conclusion: </strong>The finding in this study suggests that the <i>NAT2</i> gene is a potential biomarker for the development of T2DM and changes in triglyceride levels among Jordanians. However, it is important to note that our sample size was limited; therefore, further clinical studies with a larger cohort are necessary to validate these findings.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"847-857"},"PeriodicalIF":1.9,"publicationDate":"2023-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/af/be/pgpm-16-847.PMC10505377.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10313104","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"PSMC2 is a Novel Prognostic Biomarker and Predicts Immunotherapeutic Responses: From Pancreatic Cancer to Pan-Cancer.","authors":"Wei Huang, Zhengtao Qian, Yuxin Shi, Zheming Zhang, Rui Hou, Jie Mei, Junying Xu, Junli Ding","doi":"10.2147/PGPM.S418533","DOIUrl":"10.2147/PGPM.S418533","url":null,"abstract":"<p><strong>Background: </strong>Proteasome 26S subunit ATPase 2 (PSMC2) is a part of the 19S regulatory complex, which catalyzes the unfolding and transport of substrates into the 20S proteasome. Our previous research demonstrated that PSMC2 participates in the tumorigenesis and progression of pancreatic cancer (PC). However, no systematic analysis has been conducted to conclude its expression pattern and correlation with tumor immunity.</p><p><strong>Aim: </strong>To investigate the expression level of PSMC2 in PC, its prognostic value and its relationship with tumor immunity.</p><p><strong>Methods: </strong>In numerous public and internal cohorts, the expression, prognostic significance, and immunological connections of PSMC2 in PC were investigated. Additionally, using data from The Cancer Genome Atlas (TCGA), a pan-cancer analysis was carried out to examine PSMC2's immunological assocaition, and the predictive power of PSMC2 for immunotherapy was also evaluated in numerous public cohorts.</p><p><strong>Results: </strong>PSMC2 was overexpressed in tumor tissues and linked to unfavorable prognosis in PC. PSMC2 was not only positively correlated with TIICs, also positively correlated with immune checkpoints in PC. In addition to PC, PSMC2 was expected to be an indicator of high immunogenicity in most cancer types. Importantly, PSMC2 could predict the immunotherapeutic responses in various cancer types, including urothelial carcinoma and breast cancer.</p><p><strong>Conclusion: </strong>From PC to pan-cancer analysis, we report that PSMC2 is a novel prognostic biomarker in multiple cancer types. PSMC2 is related to the immuno-hot phenotype and predicts the outcome of immunotherapy. Therefore, the current study emphasizes that cancer patients with high PMSC2 expression should actively receive immunotherapy to improve their prognosis.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"747-758"},"PeriodicalIF":1.8,"publicationDate":"2023-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fd/6f/pgpm-16-747.PMC10423611.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10006285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of Novel Prognostic Biomarkers That are Associated with Immune Microenvironment Based on GABA-Related Molecular Subtypes in Gastric Cancer.","authors":"Beibei Wang, Linlin Huang, Shanliang Ye, Zhongwen Zheng, Shanying Liao","doi":"10.2147/PGPM.S411862","DOIUrl":"10.2147/PGPM.S411862","url":null,"abstract":"<p><strong>Background: </strong>Gamma-aminobutyric acid (GABA) plays an important role in tumorigenesis and progression. Despite this, the role of Reactome GABA receptor activation (RGRA) on gastric cancer (GC) remains unclear. This study was intended to screen RGRA-related genes in GC and investigate their prognostic value.</p><p><strong>Methods: </strong>GSVA algorithm was used to assess the score of RGRA. GC patients were divided into two subtypes based on the median score of RGRA. GSEA, functional enrichment analysis, and immune infiltration analysis were performed between the two subgroups. Then, differentially expressed analysis, and weighted gene co-expression network analysis (WGCNA) were used to identify RGRA-related genes. The prognosis and expression of core genes were analyzed and validated in the TCGA database, GEO database, and clinical samples. ssGSEA and ESTIMATE algorithms were used to assess the immune cell infiltration in the low- and high-core genes subgroups.</p><p><strong>Results: </strong>High-RGRA subtype had a poor prognosis and activated immune-related pathways, as well as an activated immune microenvironment. ATP1A2 was identified to be the core gene. The expression of ATP1A2 was associated with the overall survival rate and tumor stage, and its expression was down-regulated in GC patients. Furthermore, ATP1A2 expression was positively correlated with the level of immune cells, including B cells, CD8 T cells, cytotoxic cells, DC, eosinophils, macrophages, mast cells, NK cells, and T cells.</p><p><strong>Conclusion: </strong>Two RGRA-related molecular subtypes were identified that could predict the outcome in GC patients. ATP1A2 was a core immunoregulatory gene and was associated with prognosis and immune cell infiltration in GC.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"665-679"},"PeriodicalIF":1.9,"publicationDate":"2023-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ae/09/pgpm-16-665.PMC10315139.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9792751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Use of Continuous Glucose Monitors to Manage Type 1 Diabetes Mellitus: Progress, Challenges, and Recommendations.","authors":"Jared G Friedman, Zulma Cardona Matos, Emily D Szmuilowicz, Grazia Aleppo","doi":"10.2147/PGPM.S374663","DOIUrl":"10.2147/PGPM.S374663","url":null,"abstract":"<p><p>Type 1 diabetes (T1D) management has been revolutionized with the development and routine utilization of continuous glucose monitoring (CGM). CGM technology has allowed for the ability to track dynamic glycemic fluctuations and trends over time allowing for optimization of medical therapy and the prevention of dangerous hypoglycemic events. This review details currently-available real-time and intermittently-scanned CGM devices, clinical benefits, and challenges of CGM use, and current guidelines supporting its use in the clinical care of patients with T1D. We additionally describe future issues that will need to be addressed as CGM technology continues to evolve.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"263-276"},"PeriodicalIF":1.9,"publicationDate":"2023-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/32/1e/pgpm-16-263.PMC10072139.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9625864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Massive Hepatocellular Carcinoma with Situs Inversus Totalis Achieved a Complete Response Following Camrelizumab Plus Apatinib and Combined with Two-Stage Hepatectomy: A Case Report.","authors":"Yining Wu, Shenjian Ou, Xiwen Liao, Chuangye Han, Chengkun Yang, Wei Qin, Yufeng Tan, Quan Lao, Tao Peng, Xinping Ye","doi":"10.2147/PGPM.S376596","DOIUrl":"10.2147/PGPM.S376596","url":null,"abstract":"<p><p>Situs inversus totalis (SIT) is a rare congenital condition in which abdominal and thoracic organs are transposed from normal positions. Two-stage hepatectomy (TSH) combined with translational therapy for hepatocellular carcinoma (HCC) with SIT has been rarely reported. We report a 41-year-old man with giant hepatocellular carcinoma (71 mm × 55 mm × 51 mm) whose future residual liver (FLR) and standard liver volume (SLV) ratio at first diagnosis was 37.4%. Preoperative volume assessment of portal vein ligation (PVL) revealed inadequate hypertrophy of FLR. After a multidisciplinary group discussion (MDT), the patient decided to follow conversion therapy. Three months later, ratio of the FLR/SLV increased from 37.4% to 71% after operation, which met the surgical requirements. Second hepatectomy, right lobectomy was successful. There was no recurrence after six months of follow-up. In our case, conversion therapy appears to be effective in maintaining residual liver hyperplasia, reducing tumor load, and preventing tumor progression in patients with large HCC during TSH.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"111-120"},"PeriodicalIF":1.8,"publicationDate":"2023-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/0f/45/pgpm-16-111.PMC9921441.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10713044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nidogen-2 (NID2) is a Key Factor in Collagen Causing Poor Response to Immunotherapy in Melanoma.","authors":"Yan Sha,&nbsp;An-Qi Mao,&nbsp;Yuan-Jie Liu,&nbsp;Jie-Pin Li,&nbsp;Ya-Ting Gong,&nbsp;Dong Xiao,&nbsp;Jun Huang,&nbsp;Yan-Wei Gao,&nbsp;Mu-Yao Wu,&nbsp;Hui Shen","doi":"10.2147/PGPM.S399886","DOIUrl":"https://doi.org/10.2147/PGPM.S399886","url":null,"abstract":"<p><strong>Background: </strong>The incidence of cutaneous melanoma continues to rise rapidly and has an extremely poor prognosis. Immunotherapy strategies are the most effective approach for patients who have developed metastases, but not all cases have been successful due to the complex and variable mechanisms of melanoma response to immune checkpoint inhibition.</p><p><strong>Methods: </strong>We synthesized collagen-coding gene expression data (second-generation and single-cell sequencing) from public Gene Expression Omnibus (GEO) and The Cancer Genome Atlas (TCGA) databases. Bioinformatics analysis was performed using R software and several database resources such as Metascape database, Gene Set Cancer Analysis (GSCA) database, and Cytoscape software, etc., to investigate the biological mechanisms that may be related with collagens. Immunofluorescence and immunohistochemical staining were used to validate the expression and localization of Nidogen-2 (NID2).</p><p><strong>Results: </strong>Melanoma patients can be divided into two collagen clusters. Patients with high collagen levels (C1) had a shorter survival than those with low collagen levels (C2) and were less likely to benefit from immunotherapy. We demonstrated that NID2 is a potential key factor in the collagen phenotype, is involved in fibroblast activation in melanoma, and forms a barrier to limit the proximity of CD8+ T cells to tumor cells.</p><p><strong>Conclusion: </strong>We clarified the adverse effects of collagen on melanoma patients and identified NID2 as a potential therapeutic target.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"153-172"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f4/b8/pgpm-16-153.PMC9994630.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9155229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pharmacogenetic Practice of Anticancer Drugs: Multiple Approaches for an Accurate and Comprehensive Genotyping.","authors":"Cristina Montrasio,&nbsp;Stefania Cheli,&nbsp;Emilio Clementi","doi":"10.2147/PGPM.S412430","DOIUrl":"https://doi.org/10.2147/PGPM.S412430","url":null,"abstract":"<p><p>The application of pharmacogenetics in oncology is part of the routine clinical practice. In particular, genotyping of dihydropyrimidine dehydrogenase (DPYD) and UDP-glucuronosyltransferase (UGT1A1) is crucial to manage the treatment of patients taking fluoropyrimidines and irinotecan. The unique approach of our laboratory to the pharmacogenetic diagnostic service in oncology is to combine two real-time PCR methods, LightSNiP assay (TIB MOLBIOL), and more recently FRET (Fluorescent Resonance Energy Transfer) probes technology (Nuclear Laser Medicine), plus TaqMan assay (Thermo Fisher) for the confirmation of the presence of variant alleles on DNA from a second extraction. We found that both the FRET and LightSNiP assays, where detection occurs by melting curve analysis, offer an advantage over the competing TaqMan technology. Whereas unexpected genetic variants may be missed using a mutation-specific TaqMan assay, the information thus obtained can be useful to adjust the therapy in case of unexpected post-treatment toxicity. The combination of TaqMan and FRET assays helped us to achieve more accurate genotyping and a correct result for the patient. The added value of the DPYD FRET assay is the possibility of detecting, with the same amplification profile of the polymorphisms detailed in the guidelines, also the c.2194G>A (*6 rs1801160), cited in the recommendations as a variant to be investigated in case of severe toxicity. Regarding the UGT1A1 (TA)n promoter polymorphism (rs3064744), the distinctive and positive feature of the FRET assay is to allow clearly identifying all those potential variant alleles, including the (TA)5 and (TA)8 alleles, that are frequent in African Americans. Our clinical practice emphasizes the importance of not only rapid and easy-to-use assays, such as the new FRET ones, but also of accurate and comprehensive genotyping for good pharmacogenetic diagnostic activity.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"739-746"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/31/53/pgpm-16-739.PMC10390719.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9924389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"No one left behind: review of precision medicine and cystic fibrosis—how the changing approach to cystic fibrosis treatment might lead to tailored therapies for all","authors":"Viktor Sekowski, Winnie M. Leung, G. Ferrara, Grace Y. Lam","doi":"10.21037/prpm-22-12","DOIUrl":"https://doi.org/10.21037/prpm-22-12","url":null,"abstract":"","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"18 1","pages":""},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80065301","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Case Report: Congenital Myasthenic Syndrome Presenting with Bilateral Vocal Cord Paralysis Caused by De-Novel Compound Heterozygous MUSK Mutation.","authors":"Lan Jiang,&nbsp;Sheng-Cai Wang,&nbsp;Jie Zhang,&nbsp;Fu-Gen Han,&nbsp;Jing Zhao,&nbsp;Ying Xu","doi":"10.2147/PGPM.S398071","DOIUrl":"https://doi.org/10.2147/PGPM.S398071","url":null,"abstract":"<p><strong>Background: </strong>We report the genetic etiology of a case of bilateral vocal cord paralysis in a female infant.</p><p><strong>Case description: </strong>The female infant developed dyspnea after birth, which improved with treatment, allowing her to be discharged from the local hospital. At 2 months of age, the child experienced a recurrence of dyspnea and was treated in a local hospital with interventions such as tracheal intubation and mechanical ventilation. However, as the child continued to suffer from dyspnea, she was transferred to the neonatal intensive care unit of the Children's Hospital affiliated to Zhengzhou University for further treatment. A second electronic nasopharyngoscopy examination revealed bilateral vocal cord paralysis. The child underwent a tracheostomy due to a failure to wean from mechanical ventilation; after surgery, the respirator was effectively removed, and oxygen delivery ceased. The child and her parents underwent genetic testing with next-generation sequencing technology, which revealed that the child had two heterozygous variants in the MUSK gene, namely the c.2287G>A heterozygous mutation (p.Ala763Thr) and the c.790C>T heterozygous mutation. In addition, Sanger sequencing was performed, which confirmed that these two mutations were, respectively, inherited from the mother and father.</p><p><strong>Conclusion: </strong>Congenital myasthenic syndrome caused by MUSK gene mutations can present clinically as bilateral vocal cord paralysis in neonates.</p>","PeriodicalId":56015,"journal":{"name":"Pharmacogenomics & Personalized Medicine","volume":"16 ","pages":"373-379"},"PeriodicalIF":1.9,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/9e/5b/pgpm-16-373.PMC10120818.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9758050","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}