Frontiers in Genetics最新文献

{"title":"Personalized skin health management and nutrition strategies: a comprehensive study based on genetic polymorphisms and dietary factors.","authors":"Jitao Yang","doi":"10.3389/fgene.2025.1624960","DOIUrl":"10.3389/fgene.2025.1624960","url":null,"abstract":"<p><p>Genetic polymorphism significantly affects an individual's skin health through various biological pathways such as sensitivity to ultraviolet radiation, antioxidant capacity, inflammatory response, skin barrier function, and natural aging processes. For example, the variation of <i>MC1R</i> gene is associated with red hair and low skin pigmentation, increasing sensitivity to UV radiation, which may accelerate the process of photoaging, such as skin sagging, wrinkles, and pigmentation. Therefore, genetic polymorphism is an important factor in the development of personalized skin health management strategies, which helps to better understand the mechanisms of skin problems and provides theoretical basis for scientific skincare. There is a close relationship between diet, skin health, and skin aging. Many basic and clinical studies have confirmed that diet is the main way for humans to obtain the nutrients needed by the body. Adjusting dietary structure and supplementing specific dietary nutrients can have the effect of delaying skin aging. For example, vitamin C is a powerful water-soluble antioxidant that is crucial for collagen biosynthesis. It can directly promote the expression of collagen genes and eliminate intracellular reactive oxygen species, prevent lipid peroxidation, and delay skin aging. Additionally, <i>SLC23A1</i> gene encodes antibody transporters, participate in the balance and circulation of vitamin C in the body, and affect the level of vitamin C in the blood. Therefore, in this paper, we integrate multidimensional data including skin genetic testing data, nutrition genetic testing data, dietary and lifestyle questionnaires for data analysis, so that to provide customized nutrition and skincare solutions for each individual. It is expected that combining various omics data and offering personalized solutions will become one of the primary approaches in the field of skin care.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1624960"},"PeriodicalIF":2.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477002/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Functional characterization of MFSD3 in auditory system and zebrafish embryogenesis.","authors":"Ying Ma, Shi-Wei Qiu, Wei-Qian Wang, Hai-Feng Feng, Lu Zheng, Ge-Ge Wei, Hui-Yi Nie, Jin-Yuan Yang, Yi-Jin Chen, Pu Dai, Xue Gao, Yong-Yi Yuan","doi":"10.3389/fgene.2025.1634493","DOIUrl":"10.3389/fgene.2025.1634493","url":null,"abstract":"<p><p>The solute carriers (SLCs) are important membrane-bound transporters that regulate cellular nutrition, metabolism, homeostasis and survival. Emerging evidence highlights the critical involvement of SLCs in auditory physiology. To date, over ten SLC family members have been linked to hearing function. MFSD3 (also known as SLC33A2), is a putative plasma membrane-localized acetyl-CoA transporter regulating lipid metabolism and energy homeostasis. It has been found to be associated with the pathogenesis of neurodegenerative dementia and tumor progression. Nevertheless, its potential role in hearing remains unexplored. In this study, through qRT-PCR, we demonstrated that <i>mfsd3</i> was predominantly expressed during early embryonic development in zebrafish. Morpholino-mediated <i>mfsd3</i> knockdown in zebrafish induced inner ear malformations (hypoplastic otic vesicles, reduced otolith size) and hair cells loss in lateral line neuromasts. Additionally, Mfsd3 deficiency led to developmental defects (pericardial edema, body axis curvature) and impaired locomotor activity in zebrafish. The qRT-PCR analysis further revealed significant upregulation of key Wnt/β-catenin pathway components (<i>dkk1b</i>, <i>wnt8a</i>, <i>lrp6</i>, <i>frzb</i> and <i>COX2</i>) in <i>mfsd3</i> knockdown zebrafish. Our findings suggest <i>MFSD3</i> as a potential participant in auditory function and embryogenesis, with implications for understanding hearing loss pathogenesis.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1634493"},"PeriodicalIF":2.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477447/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Construction of a novel prognostic model for gastric cancer based on pharmacokinetics-related genes and comprehensive prognostic analysis.","authors":"Yu Zhang, Kai Jia, Yuntong Guo, Xiaole Ma, Tian Yao, Feng Wu, He Huang","doi":"10.3389/fgene.2025.1541401","DOIUrl":"10.3389/fgene.2025.1541401","url":null,"abstract":"<p><strong>Background: </strong>Absorption, distribution, metabolism, and excretion of drugs-related genes (ADMERGs), pivotal in cancer occurrence, development, and chemotherapy resistance, lack investigation in gastric cancer (GC). Thus, this study aims to build a prognostic model for gastric cancer utilizing ADMERGs.</p><p><strong>Methods: </strong>The GC-related datasets, including TCGA-GC, GSE62254, GSE163558 and GSE13911, as well as 298 ADMERGs, were retrieved in this study. Prognostic risk models associated with ADME were developed utilizing univariate Cox analysis, followed by additional refinement using the least absolute shrinkage and selection operator (LASSO). The entire pool of gastric cancer (GC) patient samples was partitioned into high and low-risk categories, delineated by the median value of their respective risk scores. Within these two distinct groups, we conducted enrichment analysis, immune infiltration, and prognostic evaluation of ADME-related prognostic genes to uncover their molecular mechanisms in GC. The construction of ceRNA regulatory networks was undertaken to analyse the prognostic gene regulatory mechanisms. We analyzed single-cell data in GC to investigate the mechanisms driving its onset and progression at the cellular level. Additionally, we validated the expression trends of prognostic genes in clinical samples using RT-qPCR.</p><p><strong>Results: </strong>A prognostic model for GC was established and validated, comprising five genes (<i>UGT1A1, ADH4, ADH1B, CYP19A1,</i> and <i>GPX3</i>). The levels of infiltration of 21 immune cells exhibited significant disparities between the two risk groups, such as central memory CD4 T cells, activated B cells, and mast cells. There was a notable positive correlation between the risk scores and mast cells and plasmacytoid dendritic cells. In the high-risk group, the TIDE scores were heightened. The single-cell dataset showed significant under-expression of <i>ADH1B, ADH4, CYP19A1</i>, and <i>GPX3</i> in tumor samples. Finally, RT-qPCR showed that all the prognostic genes except for ADH4 were under-expressed in tumor tissues.</p><p><strong>Conclusion: </strong>We have developed and validated an innovative prognostic risk model for GC, revealing that elevated ADMERGs risk scores are indicative of unfavorable prognosis and diminished immunotherapy response. These findings furnish molecular evidence regarding the participation of ADMERGs in modulating the immune microenvironment and therapeutic responsiveness in GC.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1541401"},"PeriodicalIF":2.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477026/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization of the phenotype and function of PRELP⁺ fibroblast subtype in liver metastatic colorectal cancer.","authors":"Yuting Dai, Xingying Huang, Min Sun, Shiyu Zhang, Weiqiang Yu, Kongwang Hu, Qiang Wu, Qingfa Wu","doi":"10.3389/fgene.2025.1615259","DOIUrl":"10.3389/fgene.2025.1615259","url":null,"abstract":"<p><strong>Introduction: </strong>Fibroblasts are critical mediators of tumor progression and metastasis; however, their heterogeneity and specific functions in the context of colorectal cancer (CRC) liver metastases remain incompletely understood.</p><p><strong>Methods: </strong>We performed single-cell RNA sequencing (scRNA-seq) analysis on relevant tissue samples. Subsequently, we validated our findings using immunofluorescence assays on histological slides from primary CRC with liver metastasis (mCC) and liver metastatic tumors (mLC). Further investigations included transcriptomic profiling, pseudotime trajectory analysis, multiplex immunofluorescence staining, and cell-cell communication analysis.</p><p><strong>Results: </strong>Our scRNA-seq analysis identified a distinct PRELP-positive cancer-associated fibroblast (CAF) subtype that is associated with liver metastasis and tumor progression. These PRELP+ CAFs were predominantly enriched in mLC, less abundant in mCC, and rare in non-metastatic CRC (nCC). This distribution was confirmed by immunofluorescence. Transcriptomically, PRELP+ CAFs exhibit a unique signature defined by extracellular matrix components (e.g., PRELP, COLEC11, ITGBL1) and the activation of pro-tumor pathways such as TGF-β and Wnt signaling. Pseudotime analysis indicated they represent a terminal fibroblast differentiation state. Spatially, they colocalize with immune cells (T cells, B cells, plasma cells), and communication analysis suggests they foster an immunosuppressive microenvironment via APP-CD74 and collagen-CD44 signaling, thereby promoting immune evasion. The transcription factors NR2F2, JUN, and JUND were identified as key regulators of this CAF subtype.</p><p><strong>Discussion: </strong>These findings provide crucial new insights into fibroblast heterogeneity within CRC liver metastases. We characterize PRELP+ CAFs as a specialized, terminally differentiated fibroblast population that contributes to immunosuppression and tumor progression, highlighting them as a potential therapeutic target for inhibiting metastatic advancement.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1615259"},"PeriodicalIF":2.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12477005/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145199126","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dissecting and validation the biomarker of heart failure progression in patients with atherosclerosis by single-cell sequencing, bioinformatics, and machine learning.","authors":"Lihua Ni, Huabo Li, Juan Du, Ke Zhou, Fugui Zhang, Liankai Wang","doi":"10.3389/fgene.2025.1587274","DOIUrl":"10.3389/fgene.2025.1587274","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to identify early biomarkers associated with the progression from atherosclerosis (AS) to heart failure (HF) by integrating single-cell RNA sequencing (scRNA-seq) and bulk transcriptomic data, and to explore the potential underlying mechanisms.</p><p><strong>Method: </strong>Transcriptomic datasets (GSE28829 and GSE57345) were obtained from the Gene Expression Omnibus (GEO) database, and single-cell RNA sequencing (scRNA-seq) data were downloaded from the Human Cell Landscape (HCL) platform. Genes of interest were identified by integrating results from weighted gene co-expression network analysis (WGCNA), differentially expressed genes (DEGs) analysis, and cell-type-specific expression patterns. Three machine learning algorithms (LASSO, Random Forest, and SVM-RFE) were employed to screen for robust candidate biomarkers. External validation was performed using three independent datasets: GSE53274, GSE5406, and GSE59867.</p><p><strong>Result: </strong>ScRNA-seq data screened for 2828 cardiac-related genes. WGCNA identified 918 genes highly associated with AS. In addition, the limma package identified 9675 DEGs associated with HF progression. A total of 119 overlapping genes were obtained by intersecting the results from the above three analyses. Based on these 119 overlapping genes, three machine learning algorithms (LASSO, Random Forest, and SVM-RFE) were applied to datasets GSE28829 and GSE57345, and consistently identified CD48 as a robust signature gene, with an area under the curve (AUC) greater than 0.7. External validation confirmed CD48 as a potential biomarker for the progression from AS to HF.</p><p><strong>Conclusion: </strong>CD48 was identified as a potential early biomarker for the transition from AS to HF, which may offer new insights for risk stratification and early intervention in disease progression.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1587274"},"PeriodicalIF":2.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12464422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145185718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Whole-exome sequencing in pediatric patients with glomerulonephritis.","authors":"Marina Peric, Marija Brankovic, Natasa Stajic, Jovana Putnik, Aleksandra Paripovic, Milena Jankovic, Dejan Nikolic, Filip Milanovic, Ivana Novakovic, Vladislav Vukomanovic","doi":"10.3389/fgene.2025.1611340","DOIUrl":"10.3389/fgene.2025.1611340","url":null,"abstract":"<p><strong>Introduction: </strong>High-throughput sequencing methods revealed disease-causing and susceptibility genes underlying glomerulonephritis (GN). Genetic disorders mimicking GN may be diagnosed in this way. The aim of this study was to perform whole-exome sequencing (WES) in a cohort of sporadic pediatric patients diagnosed with primary or secondary GN.</p><p><strong>Method: </strong>Thirty-one patients with GN and 50 nephrologically and immunologically healthy pediatric patients (control group - CG) were genetically analyzed. Allele frequencies were compared with the GnomAD database. WES was performed in the laboratory 3billion in South Korea.</p><p><strong>Results: </strong>Among 10 patients with primary GN, two patients were positive on WES (20%). One had a likely pathogenic heterozygous variant in the <i>COL4A3</i> gene associated with Alport syndrome, and one had a heterozygous novel variant of uncertain significance in the <i>CD46</i> gene associated with atypical hemolytic uremic syndrome (aHUS). In two of 14 patients with systemic lupus erythematosus (SLE) and GN, a heterozygous pathogenic variant (c.841_849 + 19del) in the <i>C2</i> gene was detected. We found no significant variants in seven patients with Henoch-Schönlein purpura (HSP) and GN.</p><p><strong>Conclusion: </strong>WES helped us detect hereditary diseases that have a clinical presentation like GN, including Alport syndrome and possible aHUS. Finding susceptibility genes in GN helped us understand disease pathophysiology.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1611340"},"PeriodicalIF":2.8,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12463631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145185747","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Shotgun metagenomics detects the human pegivirus complete genome in a pediatric patient with acute hepatitis of unknown etiology: a case report.","authors":"Roberta Vazzana, Alessandra Mularoni, Claudia Vaiana, Andrea Cona, Giovanni Mulè, Caterina Amato, Giusy Ranucci, Pier Giulio Conaldi, Valentina Agnese, Nicola Cuscino, Alessia Gallo","doi":"10.3389/fgene.2025.1653082","DOIUrl":"10.3389/fgene.2025.1653082","url":null,"abstract":"<p><p>Human pegivirus (HPgV) is a positive-sense, single-strand RNA virus belonging to the Flaviviridae family. Although not conclusively linked to a specific disease, an increasing number of studies have recently reported an association between this virus and different human pathologies. In this study, we present a 6-month-old female infant admitted to the hospital for severe acute hepatitis. Her clinical history started with a one week of fever and diarrhea treated with paracetamol and amoxicillin-clavulanate for a total of 4 days. The persistence of the symptoms, high levels of transaminases, coagulopathy, increased lymphocytosis, and C-reactive protein (CRP) in the blood suggested an acute hepatitis episode. Serological and molecular biology tests for hepatotropic and non-hepatotropic viruses, including hepatitis B virus (HBV), hepatitis A virus (HAV), hepatitis C virus (HCV), hepatitis E virus (HEV), Epstein-Barr virus (EBV), cytomegalovirus (CMV), herpes simplex virus (HSV), enterovirus, and adenovirus, were negative. Metabolic and genetic alterations, deficiency of alpha-1 antitrypsin, and Wilson's disease were ruled out following negative results. The child was thus treated with supportive therapy. Metagenomic next-generation sequencing (mNGS) performed to identify other possible infective agents undetected with the classical tests, showed the presence of the complete genome of human HPgV-1. This case provides further evidence supporting the hypothesis of the pathogenic role of HPgV-1 and warrants particular attention, especially in the pediatric population. Moreover, here we confirmed the diagnostic power of metagenomic-NGS in the detection of unusual pathogens.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1653082"},"PeriodicalIF":2.8,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12460081/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145185653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combined molecular characterization and dopa-responsive treatment in two patients with NR4A2-associated intellectual developmental disorder.","authors":"Na Liang, Ting Li, Yang Deng","doi":"10.3389/fgene.2025.1590292","DOIUrl":"10.3389/fgene.2025.1590292","url":null,"abstract":"<p><strong>Introduction: </strong>Pathogenic variants in <i>NR4A2</i> are associated with neurodevelopmental disorders including intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP). Here we report two pediatric <i>NR4A2</i>-related cases presenting with global developmental delay, speech impairment, and intellectual disability.</p><p><strong>Methods: </strong>Comprehensive genetic investigations including whole-exome sequencing revealed a <i>de novo</i> missense variant (c.994G>C, p.Val332Leu) in <i>NR4A2</i> and a 2q23.3-q24.2 deletion encompassing <i>NR4A2</i>. Functional validation via RNA sequencing revealed that the missense variant induces pathogenic exon 4 skipping through aberrant splicing. Both patients exhibited marked clinical improvements in linguistic competence and motor function following levodopa therapy, initiated after confirmation of dopaminergic responsiveness. A systematic review of 19 reported <i>NR4A2</i>-related cases revealed substantial phenotypic heterogeneity, with three of them demonstrating favorable responses to dopaminergic treatment.</p><p><strong>Results: </strong>Our findings underscore the diagnostic value of integrating molecular profiling with functional RNA analysis to resolve complex neurogenetic disorders. Levodopa therapy shows therapeutic potential for <i>NR4A2</i>-deficient patients with dopa-responsive features, especially in linguistic improvement. This study expands the understanding of <i>NR4A2</i>-associated pathogenesis and provides insights for the precision management of related neurodevelopmental conditions.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1590292"},"PeriodicalIF":2.8,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12460123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145185637","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Genome-wide evolution and function analysis of ALOG gene family in cotton.","authors":"Zhen Liu, Siyu Shen, Zhijuan Cui, Tao Wang, Pengtao Li, Yangyang Wei, Renhai Peng","doi":"10.3389/fgene.2025.1625634","DOIUrl":"10.3389/fgene.2025.1625634","url":null,"abstract":"<p><strong>Background: </strong>The ALOG (<i>Arabidopsis thaliana LSH1</i> and <i>Oryza sativa G1</i>) gene family is a class of transcription factors present in various plants. To elucidate the roles of ALOG genes in cotton, we systematically investigated the ALOG gene family across four cotton species (<i>Gossypium hirsutum</i>, <i>Gossypium barbadense</i>, <i>Gossypium arboreum</i> and <i>Gossypium raimondii</i>).</p><p><strong>Results: </strong>In this study, a total of 43, 42, 23 and 27 ALOG genes were identified from <i>G. hirsutum</i>, <i>G. barbadense</i>, <i>G. arboretum</i> and <i>G. raimondii</i>, respectively. The results indicated that cotton ALOG gene duplications originated before the speciation of <i>Gossypium</i> species, whole genome duplication, segmental duplication and transposable elements all play important roles in its expansion. In addition, cotton ALOG genes had undergone purifying selection during the evolution. Cis-element analysis revealed that TATA-box and CAAT-box are the most abundant in the promoters of cotton ALOG genes. Transcriptome analysis showed that the expression of ALOG genes in specific tissue is significantly higher than that in other tissues.</p><p><strong>Conclusion: </strong>This study enhances our comprehension of cotton ALOG genes, and these findings lay the foundation for functional characterizations of ALOG gene family.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1625634"},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12457153/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145148519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical utility of exome sequencing in hearing loss: a retrospective cohort study.","authors":"Chang Liu, Yanlin Huang, Anpeng Fu, Yunan Wang, Jing Wu, Yan Zhang, Li Du, Hongke Ding, Lihua Yu, Fake Li, Yiming Qi, Yuan Liu, Xingwang Wang, Yukun Zeng, Ling Liu, Ying Xiong, Yuanling Liu, Xin Zhao, Liyuan Fang, Jiayi Jian, Aihua Yin, Yanqin You","doi":"10.3389/fgene.2025.1643537","DOIUrl":"10.3389/fgene.2025.1643537","url":null,"abstract":"<p><strong>Background: </strong>Hearing loss (HL) is a prevalent sensorineural disorder with a highly heterogeneous etiology. Next-generation sequencing (NGS) has revolutionized the genetic testing landscape for diseases characterized by high genetic and allelic heterogeneity, enabling the simultaneous screening of hundreds of genes.</p><p><strong>Methods: </strong>One hundred and seventy-one unrelated patients with non-syndromic or syndromic HL were enrolled in this study. Exome sequencing (ES) was applied to explore molecular etiology in the cohort, and clinical reports were provided by geneticists and genetic counselors. Multidisciplinary team forums were conducted to ensure accurate diagnoses and improved patient management.</p><p><strong>Results: </strong>The molecular cause of HL was determined in 78 of 171 probands (45.6%): 54 with an autosomal recessive (AR) inheritance pattern, 23 with an autosomal dominant (AD) pattern, and 1 with both AR/AD inheritance patterns. Candidate variants in 33 genes were identified in the study cohort: 14 with an AR inheritance pattern, 18 with an AD pattern, and 1 with both AR/AD inheritance patterns. Twenty-eight of the variants identified in the study were novel.</p><p><strong>Conclusion: </strong>Exome sequencing facilitates genetic diagnosis and improves the management of patients with HL in clinical practice. Identifying the etiology of HL may improve patient care, refine genetic counseling, and facilitate the estimation of recurrence risk.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1643537"},"PeriodicalIF":2.8,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12457139/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145149027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}