Frontiers in Genetics最新文献

{"title":"Case Report: Multiple cerebral infarctions in a patient with hereditary hemorrhagic telangiectasia following a fall.","authors":"Linting Gu, Sheng Chen, Wenwei Li, Fanlong Ye","doi":"10.3389/fgene.2025.1581625","DOIUrl":"10.3389/fgene.2025.1581625","url":null,"abstract":"<p><p>Hereditary hemorrhagic telangiectasia (HHT), also known as Rendu-Osler-Weber syndrome, is an autosomal dominant disorder characterized by arteriovenous malformations (AVMs) affecting multiple organs. This case report presents a rare case of a 62-year-old female with multiple cerebral infarctions following a fall, subsequently diagnosed with HHT. Clinical features included recurrent epistaxis, tongue telangiectasias, and pulmonary AVMs (PAVMs). Genetic testing identified a novel duplication mutation in the ENG gene, c.680_687dupACTCGGCC (p.G230Tfs*8). Brain MRI revealed multiple unusual infarctions, with SWI findings indicating cerebral microvascular abnormalities. These findings highlight the potential role of chronic hypoperfusion and hemodynamic dysregulation, in addition to paradoxical embolism, in HHT-related stroke mechanisms. The patient's management included antiplatelet therapy adjustment and recommendations for regular imaging and genetic counseling. This case underscores the importance of considering HHT in acute ischemic stroke patients with vascular abnormalities and emphasizes the need for further research into the complex pathophysiology of HHT-related strokes.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1581625"},"PeriodicalIF":2.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12146398/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144257955","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":"The role of E2F1 in promoting EIF4EBP1 transcription in cryptorchid mice: association with autophagy in germ cells.","authors":"Jianguo Zhang, Yanhui Liu, Hailong Zhang, Lin Yang, Danjing Sun, Lili Xiao, Xiaoyun Wang, Xiangming Wu","doi":"10.3389/fgene.2025.1536672","DOIUrl":"10.3389/fgene.2025.1536672","url":null,"abstract":"<p><strong>Introduction: </strong>Cryptorchidism can cause excessive germ cell autophagy and apoptosis to impair fertility. This study investigates the role of E2F1 in regulating EIF4EBP1 expression and its contribution to excessive autophagy and apoptosis in cryptorchidism.</p><p><strong>Methods: </strong>A cryptorchidism mouse model was established through surgical intervention, while an <i>in vitro</i> cryptorchid spermatogonial cell model was created using heat stress. Expression levels of EIF4EBP1 and key proteins involved in autophagy and apoptosis were assessed by reverse transcription quantitative polymerase chain reaction (RT-qPCR) and Western blotting Testicular damage and fibrosis were evaluated through HE staining and Masson staining. Serum and testicular testosterone levels were measured, alongside markers of oxidative stress. The regulatory role of E2F1 on EIF4EBP1 was confirmed by dual-luciferase reporter assays and ChIP. Further analysis of the effects of E2F1 and EIF4EBP1 on testicular damage, apoptosis, and autophagy was performed by manipulating EIF4EBP1 expression.</p><p><strong>Results: </strong>In the cryptorchidism mouse model, reduced testicular volume and weight, increased testicular damage and fibrosis, decreased testosterone levels, and impaired sperm count and vitality were observed. In the <i>in vitro</i> cryptorchid spermatogonial cell model, cell viability was reduced, while oxidative stress was elevated. Both autophagy and apoptosis were exacerbated in these models. EIF4EBP1 expression was upregulated, and its knockdown ameliorated the adverse effects. E2F1 was identified as an upstream regulator of EIF4EBP1, with knockdown of E2F1 significantly decreasing EIF4EBP1 promoter activity and binding. Inhibition of E2F1 using HLM006474 reduced EIF4EBP1 expression, while EIF4EBP1 overexpression aggravated autophagy and apoptosis.</p><p><strong>Conclusion: </strong>E2F1 regulates EIF4EBP1 expression in cryptorchidism, contributing to excessive autophagy and apoptosis. Inhibiting E2F1 reduces these pathological processes, alleviating testicular damage and improving fertility, highlighting potential therapeutic targets for cryptorchidism.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1536672"},"PeriodicalIF":2.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141231/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247551","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":"Molecular variants of multiple genes were revealed by whole-exome sequencing in PCOS patients with diabetes.","authors":"Chenglin Wang","doi":"10.3389/fgene.2025.1541946","DOIUrl":"10.3389/fgene.2025.1541946","url":null,"abstract":"<p><strong>Objective: </strong>To screen for possible pathogenic mutations in polycystic ovary syndrome (PCOS) patients with diabetes and preliminarily explore the relationship between genotype and phenotype to offer a research basis for PCOS pathogenesis with diabetes.</p><p><strong>Methods: </strong>Four patients with PCOS and diabetes were recruited and their demographic and clinical data were collected. Genomic DNA was extracted from peripheral blood leukocytes of the study subjects. High-throughput whole-exome sequencing was conducted to identify candidate genes that could play a pathogenic role in PCOS with diabetes in Aiji Taikang. The sequencing data obtained were evaluated using a variety of bioinformatics tools. Verification of candidate sites was done by Sanger sequencing.</p><p><strong>Results: </strong>Based on whole-exome sequencing, six mutations residing in three genes were detected in these four patients: (1) <i>MUC4</i> located at Chr 3q29, (2) FSHD region gene 1 (<i>FRG1</i>)gene located at Chr 4q35.2, and (3) androgen receptor (<i>AR</i>) located at Chr Xq11-q12 were detected in these four patients (every patients had the 6 mutations). Of the six genetic mutations, an insertion/deletion (indel) mutation was found in the mucin 4 (<i>MUC4</i>) gene [MUC4:NM_018406.6:2/25:c.7701_7702insTCAGTATCCACAGGTCATGCCACCCCTCTTCATGTCACCGACACTTCC:p.(Ser2567_Ala2568insSerValSerThrGlyHisAlaThrProLeuHisValThrAspThrSer)], and an indel mutation in the <i>AR</i> gene (<i>AR</i>:NM_000044:exon1:c.173_174insGCAGCA:p. Q58delinsQQQ), while the other four were missense single-nucleotide polymorphisms (SNPs) located in <i>FRG1</i> of uncertain significance (<i>FRG1</i>:NM_004477:exon8:c.T692C:p. L231P, <i>FRG1</i>:NM_004477:exon8:c.C728T:p.T243M, <i>FRG1</i>:NM_004477:exon8:c.C733A:p.L245M, FRG1:NM_004477:exon8:c.T734G:p.L245R). A Mucin 4 (<i>MUC4</i>) gene indel mutation was detected at the same site in four patients, which could be associated with endometriosis-related infertility. The <i>AR</i> gene indel mutation, <i>AR</i>:NM_000044:exon1:c.173_174insGCAGCA: p. Q58delinsQQQ was detected simultaneously in four patients.</p><p><strong>Conclusion: </strong>Whole exome sequencing can quickly identify candidate genes for genes. Gaining an in-depth understanding of the AR mutations underlying PCOS with diabetes will deepen our understanding of the endocrine factors involved in the disease etiology, and provide potential targets for treatment.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1541946"},"PeriodicalIF":2.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141311/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247549","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":"Global, regional, and national burden of glucose-6-phosphate dehydrogenase (G6PD) deficiency from 1990 to 2021: a systematic analysis of the global burden of disease study 2021.","authors":"Zhengyu Yu, Qiang Xiong, Zhongwang Wang, Linfeng Li, Ting Niu","doi":"10.3389/fgene.2025.1593728","DOIUrl":"10.3389/fgene.2025.1593728","url":null,"abstract":"<p><strong>Background: </strong>Glucose-6-phosphate dehydrogenase (G6PD) deficiency remains a significant global health burden, particularly in malaria-endemic regions. Despite advances in diagnostic capabilities and treatment strategies, the prevalence and associated disability burden continue to evolve. This study provides a comprehensive assessment of the global, regional, and national burden of G6PD deficiency from 1990 to 2021, using the Global Burden of Disease (GBD) 2021 database.</p><p><strong>Methods: </strong>Data were retrieved from GBD 2021, covering 204 countries and territories. Prevalence, incidence, and years lived with disability (YLDs) were analyzed. Age-standardized rates (ASRs) and estimated annual percentage change (EAPC) were computed to assess trends over time. The relationship between socio-demographic index (SDI) and G6PD burden was examined using Spearman correlation analysis.</p><p><strong>Results: </strong>In 2021, global prevalence reached 443,326,869 cases, an 80.17% increase from 1990. The highest burden was observed in South Asia, accounting for 138,159,940 cases. The largest percentage increase in prevalence was in Andean Latin America (+291.96%). G6PD deficiency burden was negatively correlated with SDI, but high SDI regions exhibited higher prevalence than expected. Age- and sex-specific analysis revealed a higher burden in males, particularly in childhood and older age groups.</p><p><strong>Conclusion: </strong>This study underscores the growing burden of G6PD deficiency, with substantial regional disparities. The findings emphasize the need for improved screening programs, policy interventions, and resource allocation in low- and middle-income countries (LMICs). Continued surveillance is essential to mitigate the long-term health consequences of this disorder.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1593728"},"PeriodicalIF":2.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247536","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":"Distinct germ-line genetic mutation patterns correlate with reproductive outcomes in ICSI patients: a pilot study.","authors":"Ting Jiang, Yan Wang, Wandai Wu, Qianru Yang, Sixian Wu, Xueguang Zhang, Wenming Xu","doi":"10.3389/fgene.2025.1610943","DOIUrl":"10.3389/fgene.2025.1610943","url":null,"abstract":"<p><strong>Background: </strong>Infertility affects approximately 15% of couples worldwide, with male factors accounting for nearly 50% of cases. Intracytoplasmic sperm injection (ICSI) has become the standard treatment for male factor infertility, but outcomes vary significantly among couples. While conventional genetic testing using blood samples is common in reproductive medicine, the genetic composition of sperm may differ significantly from somatic cells due to mosaicism and <i>de novo</i> mutations during spermatogenesis.</p><p><strong>Methods: </strong>We collected semen samples from 11 couples with varying ICSI outcomes: successful clinical pregnancy (n = 6), implantation failure (n = 3), and early pregnancy loss (n = 2). Sperm DNA was extracted using magnetic-activated cell separation and whole-exome sequencing was performed. The sequencing data were aligned to the GRCh37/hg19 reference genome and analyzed for potentially pathogenic mutations. Semen analysis and karyotype were also evaluated.</p><p><strong>Results: </strong>Semen analysis showed no significant differences between groups except for sperm morphology. Whole-exome sequencing identified distinct mutation patterns between groups. Mutations in <i>USP9X</i>, <i>SPAG6</i> and <i>ADGRG2</i> were observed in the clinical pregnancy group. Implantation failure and pregnancy loss were associated with mutations in genes involved in embryo adhesion, immune regulation, and genomic stability, including <i>MAGEC1</i>, <i>MUC4</i> and <i>SERPINA2</i>.</p><p><strong>Conclusion: </strong>This pilot study suggests that direct sperm exome sequencing may reveal genetic variants associated with different ICSI outcomes. While our findings require validation in larger cohorts, they generate hypotheses about sperm-specific factors that might influence post-fertilization developmental events and pregnancy outcomes.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1610943"},"PeriodicalIF":2.8,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141242/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247535","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":"Outcomes of cochlear implants in patients with <i>PCDH15</i> mutations: a clinical study.","authors":"Qingling Bi, Zhongyan Chen, Baoling Kang, Yong Lv, Yongyi Yuan, Yang Liu, Jianfeng Liu, Yuan Li","doi":"10.3389/fgene.2025.1541333","DOIUrl":"10.3389/fgene.2025.1541333","url":null,"abstract":"<p><strong>Objectives: </strong>To explore molecular diagnoses in cochlear implantation (CI) recipients and evaluate CI outcomes in patients with <i>PCDH15</i> mutations.</p><p><strong>Methods: </strong>Whole-exome sequencing and biomedical informatics were used to identify potential genetic causes in 467 individuals with congenital sensorineural hearing loss. We reviewed six CI recipients with <i>PCDH15</i> mutations, assessing their CI outcomes and clinical features.</p><p><strong>Results: </strong>Nine <i>PCDH15</i> variants and a heterozygous variant in <i>CDH23</i> were identified in members of five families who underwent CI. Six of these were novel variants: exon 14-21 del, exon two del, exon 19 del, two splicing variants (c.2869-2A>C, c.1918-1G>A) in <i>PCDH15</i>, and c.209C>T in <i>CDH23</i>. All but one of the individuals with <i>PCDH15</i> mutations exhibited autosomal recessive inheritance; one showed both digenic and autosomal recessive inheritance. Variants in <i>PCDH15</i> contributed to Usher syndrome type 1F in patients 1 and 5, whereas the remaining four had isolated deafness (DFNB23). All six patients expressed satisfaction with their CI outcomes.</p><p><strong>Conclusion: </strong>CI significantly improved auditory and communication abilities in individuals with <i>PCDH15</i> mutations. Early intervention is critical for achieving favorable outcomes. Preoperative genetic testing in individuals with hearing loss provides valuable insights for predicting CI success, offering potential treatments for retinal degeneration in Usher syndrome and facilitating personalized genetic counseling.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1541333"},"PeriodicalIF":2.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12141853/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247550","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":"stGuide advances label transfer in spatial transcriptomics through attention-based supervised graph representation learning.","authors":"Yupeng Xu, Hao Dai, Jinwang Feng, Keren Xu, Qiu Wang, Pingting Gao, Chunman Zuo","doi":"10.3389/fgene.2025.1566675","DOIUrl":"10.3389/fgene.2025.1566675","url":null,"abstract":"<p><p>The growing availability of spatial transcriptomics data offers key resources for annotating query datasets using reference datasets. However, batch effects, unbalanced reference annotations, and tissue heterogeneity pose significant challenges to alignment analysis. Here, we present stGuide, an attention-based supervised graph learning model designed for cross-slice alignment and efficient label transfer from reference to query datasets. stGuide leverages supervised representations guided by reference annotations to map query slices into a shared embedding space using an attention-based mechanism. It then assigns spot-level labels by incorporating information from the nearest neighbors in the learned representation. Using human dorsolateral prefrontal cortex and breast cancer datasets, stGuide demonstrates its capabilities by (i) producing category-guided, low-dimensional features with well-mixed slices; (ii) transferring labels effectively across heterogeneous tissues; and (iii) uncovering relationships between clusters. Comparisons with state-of-the-art methods demonstrate that stGuide consistently outperforms existing approaches, positioning it as a robust and versatile tool for spatial transcriptomics analysis.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1566675"},"PeriodicalIF":2.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137301/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233927","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 and bioinformatics reveal PMAIP1 and PDGFRL as immune-related gene markers in follicular thyroid carcinoma.","authors":"Haobo Wang, Fangjian Shang, Xia Jiang, Zhongxin Li, Dongyun Li, Chuanmin Zhou, Bo Pang, Longfei Kang, Bo Liu, Zengren Zhao","doi":"10.3389/fgene.2025.1509245","DOIUrl":"10.3389/fgene.2025.1509245","url":null,"abstract":"<p><strong>Introduction: </strong>The primary clinical challenge associated with follicular thyroid carcinoma (FTC) lies in accurately diagnosing the condition, particularly in distinguishing it with follicular thyroid adenoma (FTA) due to their overlapping cytomorphological features and sonographic characteristics.</p><p><strong>Methods: </strong>Whole exome sequencing (WES) techniques and Gene Expression Omnibus (GEO) database were utilized to analyze genomic difference between FTC and FTA, with a specific focus on immune-related genes. The hub genes were subjected to enrichment analysis, immune infiltration analysis, protein-protein interaction (PPI) analysis, and receiver operating characteristic (ROC) curve analysis. Then utilized quantitative real-time polymerase chain reaction (qRT-PCR) and immunohistochemistry (IHC) to validate the expression levels of PMAIP1 and PDGFRL at the cellular and tissue levels.</p><p><strong>Results: </strong>The findings of WES and bioinformatics analysis indicated that PMAIP1 and PDGFRL were potential mutated immune-related genes in FTC, in comparison to FTA, the expression of PMAIP1 is up-regulated in FTC while PDGFRL is down-regulated, demonstrating promising diagnostic efficacy. Enrichment analysis and immune infiltration analysis suggested that PMAIP1 and PDGFRL may serve as potential therapeutic targets for FTC. The results of the validation at both cellular and tissue levels indicated an up-regulation of PMAIP1 and a down-regulation of PDGFRL in FTC, consistent with the results from bioinformatics analysis.</p><p><strong>Discussion: </strong>In conclusion, it is the first research to revealed PMAIP1 and PDGFRL as potential novel immunodiagnostic markers for FTC, shedding light on their potential biological significance in this context, and offering potential valuable clinical applications.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1509245"},"PeriodicalIF":2.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233928","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":"Autosomal recessive primary microcephaly in sibs in time of Zika epidemic: a Case Report.","authors":"Julia V Almeida, Bianca Barbosa Abdala, Natana Chaves Rabelo, Maria Eduarda Gomes, Elenice Ferreira Bastos, Juan Clinton Llerena, Sayonara Gonzalez","doi":"10.3389/fgene.2025.1565296","DOIUrl":"10.3389/fgene.2025.1565296","url":null,"abstract":"<p><p>Case report of two siblings, born to consanguineous parents, with congenital microcephaly secondary to a pathogenic homozygous <i>ASPM</i> gene variant. The proband was born during the Zika virus epidemic with a prenatal history of maternal exanthematous disease. Genetic diagnosis was made after the birth of the sibling, born with a similar condition. Next-generation sequencing enables a definitive diagnosis in cases of microcephaly, and genetic diagnosis should be pursued even when the patient history points to a possible, but not definite, environmental cause. Conclusive genetic diagnosis allows for precise and timely family planning and counseling.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1565296"},"PeriodicalIF":2.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137334/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233925","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":"Case Report: Optical genome mapping enables identification of complex balanced chromosomal rearrangements.","authors":"Xiaohang Hu, Jing Guo, Haiyang Sang, Jinyan Yan, Hong Chang, Ting Liu, Haixin Dong, Min Kong, Yanjun Tian, Liqing Jiang","doi":"10.3389/fgene.2025.1555485","DOIUrl":"10.3389/fgene.2025.1555485","url":null,"abstract":"<p><strong>Introduction: </strong>Individuals with balanced chromosomal rearrangements are at an increased risk for infertility, recurrent miscarriages, and the birth of infants with congenital malformations. Traditional cytogenetic techniques are limited by their low resolution, whereas optical genome mapping offers enhanced capabilities for detecting chromosomal rearrangements and determining genomic localization and orientation. This study sought to evaluate the efficacy of optical genome mapping in identifying complex balanced chromosomal rearrangements that may contribute to fertility challenges.</p><p><strong>Case presentation: </strong>A 21-year-old Asian female patient with a history of recurrent abortions was included in the study. Peripheral blood samples were collected for high-resolution karyotyping, chromosomal microarray analysis, and optical genome mapping. The high-resolution karyotype analysis identified complex chromosomal abnormalities. Optical genome mapping has revealed additional cryptic chromosomal aberrations, such as ins (2; 12) (p16.1; q12q12), inv (6) (q21q21), and inv (12) (q12q12), offering a novel perspective on this case. Notably, the disrupted genes, including <i>CRIM1</i>, <i>MUC19</i>, and <i>PRDM1</i>, have not been classified as pathogenic by existing databases.</p><p><strong>Conclusion: </strong>This study underscores the capability of optical genome mapping to deliver comprehensive and precise information. It is anticipated that optical genome mapping will emerge as a valuable cytogenetic tool within clinical genetic methodologies, providing new references and insights for clinical practice in the future.</p>","PeriodicalId":12750,"journal":{"name":"Frontiers in Genetics","volume":"16 ","pages":"1555485"},"PeriodicalIF":2.8,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12138902/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233926","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}