BMC Medical Genomics最新文献

{"title":"Evaluation and management of DMD gene copy number variations detected by prenatal SNP-array testing.","authors":"Jiancheng Hu, Jialun Pang, Rong Hu, Lin Zhou, Wenxian Yu, Hui Xi, Yingchun Luo, Shuting Yang, Wanglan Tang, Ai Hu, Jing Chen, Ying Peng","doi":"10.1186/s12920-026-02333-6","DOIUrl":"10.1186/s12920-026-02333-6","url":null,"abstract":"<p><p>OBJECTIVE: This study aims to evaluate the clinical management of incidental findings of copy number variations (CNVs) in the DMD gene detected through prenatal single nucleotide polymorphism array (SNP-array). METHODS: Prenatal SNP-array testing was performed on samples exhibiting CNVs in the DMD locus, followed by parental analysis using the same technique. Additionally, multiplex ligation-dependent probe amplification (MLPA) testing was conducted on prenatal cases and their parents. Pregnancy outcomes were documented, and postnatal follow-up was conducted. RESULTS: SNP-array analysis identified copy number variations at Xp21 affecting either the entire DMD gene or only a portion of it in 14 fetuses. In 11 cases, MLPA testing confirmed the presence of deletions or duplications detected by the SNP-array. CONCLUSION: High-density SNP-array platforms with low reporting thresholds may incidentally detect a subset of exon-level copy number variations involving the DMD gene during routine prenatal testing and thereby contribute to early recognition of potential dystrophinopathy-related variants. Suspected DMD-related CNVs, especially exon-level alterations, require confirmation by targeted assays such as MLPA or next-generation sequencing, together with cautious clinical interpretation. Assessing the pathogenicity of prenatally detected DMD copy number variations remains challenging, particularly for duplications, which require careful evaluation. Furthermore, the sequential, time-intensive nature of confirmatory and familial studies often limits definitive risk assessment within the prenatal decision-making window, and introduces broader familial implications that must be navigated through careful, multidisciplinary counseling. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13088639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147368856","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":"Prenatal diagnosis and clinical evaluation of fetuses with structural X chromosome abnormalities: a ten-year single-center retrospective study.","authors":"Lixian Zhang, Jianlong Zhuang, Wenli Chen, Xinying Chen, Nan Huang","doi":"10.1186/s12920-026-02340-7","DOIUrl":"10.1186/s12920-026-02340-7","url":null,"abstract":"<p><p>BACKGROUND: Structural X chromosome abnormalities are rare conditions and pose great challenges in prenatal genetic counseling. The present study aimed to identify and investigate the pregnancy outcome of fetuses with X chromosome structural abnormalities in the Chinese population. METHODS: A total of 12 fetuses with X chromosome structural abnormalities were collected from 16,817 individuals who underwent prenatal diagnosis at Quanzhou Women’s and Children’s Hospital. Karyotype and/or chromosomal microarray analysis (CMA) were utilized to detect chromosomal abnormalities. RESULTS: Among the 12 fetuses with structural X chromosome abnormalities, one case had a balanced X; autosome chromosome translocation, the other 11 cases had unbalanced X; autosome or X-Y chromosome rearrangements. Eight subjects performed CMA detection, the CMA result was inconsistent with karyotype analysis result in Case 4, in which an additional 2q37.2q37.3 microduplication observed in the fetus. Finally, the karyotype of Case 4 was described as 46,X, der(X)t(X;2)(q22.3;q37.2). Parental origin verification was performed in 9 of the 12 cases, of which four cases were de novo and five cases inherited from the pregnant women. Prenatal ultrasound examination were available for 8 out of 12 cases, all the fetuses exhibited soft ultrasound abnormalities. CONCLUSION: The present study reports a series of 12 cases with structural X chromosome abnormalities. Our findings suggest that parental verification is valuable for guiding genetic counseling and managing pregnancy outcomes in fetuses with structural X chromosome abnormalities. In addition, CMA would be benefit for investigating the precise chromosome break points detected by karyotype analysis. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13067410/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347154","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 compound heterozygote variants in the PCCB gene in a fetus with undetectable fetal phenotype.","authors":"Xingyu Feng, Yao Hu, Huiming Yan, Lin Zhou, Na Ma, Chulong Xiong, Hui Xi","doi":"10.1186/s12920-026-02338-1","DOIUrl":"10.1186/s12920-026-02338-1","url":null,"abstract":"<p><p>Propionic acidemia (PA) is a rare autosomal recessive metabolic disorder caused by functional deficiency of propionyl-CoA carboxylase, clinically characterized by life-threatening ketoacidosis, hyperammonemia, and multiorgan dysfunction. Due to its nonspecific clinical manifestations, PA is frequently misdiagnosed or only identified during severe metabolic crises. This study reports a Chinese family with a history of offspring affected by PA. Through whole-exome sequencing and Sanger validation of fetal amniotic fluid and parental peripheral blood samples, two novel compound heterozygous variants in the PCCB gene were identified in the fetus, initially classified as variants of uncertain significance (VUS) per ACMG guidelines. Subsequent functional studies and amniotic fluid metabolomic analyses were performed. The results demonstrated that the paternal PCCB c.366_372 + 7del variant caused exon 3 skipping(p.Phe102_Gln124del) or exon 2–3 skipping (p.Gly62_Gln124del), while the maternal c.183 + 6T > G variant resulted in intron 1 retention (p.Gly62Valfs*10), both leading to protein truncation and aberrant mRNA splicing. Metabolomic analysis demonstrated significantly elevated C3 levels and an increased C3/C2 ratio, consistent with PA diagnosis. These novel PCCB splicing variants expand the mutational spectrum of PA and demonstrate the clinical utility of integrated genomic-metabolomic analysis for prenatal diagnosis and genetic counseling in high-risk PA families.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13067572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347256","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":"Association of VDR BsmI polymorphism and vitamin D status with osteoarthritis susceptibility.","authors":"Shawnim M Maaruf, Dara K Mohammad, Treska S Hassan, Azhin D Aziz, Raya Kh Yashooa, Haween T Hassan, Sarkawt Sarteeb Fattah Agha, Rebar Nadhem A Daham, Mukhlis H Aali, Suhad A Mustafa","doi":"10.1186/s12920-026-02339-0","DOIUrl":"10.1186/s12920-026-02339-0","url":null,"abstract":"<p><strong>Background: </strong>Osteoarthritis (OA) is a chronic degenerative joint disease influenced by genetic, environmental, and immunological factors. Vitamin D exerts immunomodulatory and anti-inflammatory effects through the vitamin D receptor (VDR), and genetic variation in the VDR gene may influence susceptibility to OA. However, data from Middle Eastern and Kurdish populations remain limited.</p><p><strong>Objective: </strong>This study aimed to evaluate the association between serum vitamin D status and four common VDR gene polymorphisms (FokI, ApaI, TaqI, and BsmI) in Kurdish adults with knee osteoarthritis.</p><p><strong>Methods: </strong>A hospital-based case-control study was conducted, including 100 OA patients and 100 healthy controls recruited in Erbil, Iraq. Serum vitamin D levels were measured biochemically, and VDR polymorphisms were genotyped using PCR-RFLP and sequencing. Association analyses were performed for polymorphic loci using univariate logistic regression.</p><p><strong>Results: </strong>No allelic or genotypic variation was detected at the FokI (rs2228570), ApaI (rs7975232), or TaqI (rs731236) loci, indicating allele fixation in this population. In contrast, the BsmI (rs1544410) polymorphism exhibited significant variability. The AA genotype was significantly more frequent among OA patients than controls and was associated with increased odds of OA (OR = 2.26, 95% CI = 1.21-4.23; p = 0.006).</p><p><strong>Conclusions: </strong>The findings indicate that the VDR BsmI polymorphism is associated with knee osteoarthritis in the Kurdish population, whereas FokI, ApaI, and TaqI loci were non-polymorphic. These results highlight population-specific genetic variation within the VDR gene and underscore the need for larger studies incorporating functional validation to clarify the biological relevance of BsmI variation in osteoarthritis.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13064060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147343675","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":"Genetic modulators of metabolic dysfunction-associated steatotic liver disease (MASLD) and their epistatic interactions: from in vitro and animal models to clinical outcomes.","authors":"Fernanda G Arriaga-González, Felipe de Jesús Castañeda-Córdova, Mauricio Díaz-Muñoz, Matthew Hoare, David J Adams, Carla Daniela Robles-Espinoza, Christian Molina-Aguilar","doi":"10.1186/s12920-026-02332-7","DOIUrl":"10.1186/s12920-026-02332-7","url":null,"abstract":"<p><p>Metabolic dysfunction-associated steatotic liver disease (MASLD), previously known as NAFLD (non-alcoholic fatty liver disease), is a growing global concern, affecting nearly a third of the world’s population. This umbrella term covers a range of liver pathologies, from reversible disease stages like simple steatosis, to irreversible conditions such as cirrhosis and hepatocellular carcinoma (HCC). MASLD, which may result from metabolic risk factors like obesity and type 2 diabetes, is projected to increase due to a rise in sedentary lifestyles. This review addresses genetic influences that predispose to disease development, including the role of risk-conferring and protective/preventive alleles. The epistatic relationships between genetic variants can significantly influence the development and progression of MASLD. Key genetic variants, such as those located in the PNPLA3, TM6SF2, and MBOAT7 genes, often interact to exacerbate MASLD severity and play key roles in lipid metabolism and liver inflammation. For example, the co-expression of certain PNPLA3 and TM6SF2 variants increases the risk of advanced fibrosis and HCC. Some variants located in HSD17B13 and MTARC1 offer protective effects, reducing the risk of severe liver disease despite comorbidities such as obesity, and can mitigate the harmful effects of these risk alleles. Additionally, the potential of polygenic risk scores (PRS) to predict MASLD development and its complications is also discussed, although challenges remain, particularly in underrepresented populations due to the lack of comprehensive catalogues of genetic variation. Understanding these complex gene-gene interactions and the role of the environment underscores the importance of considering epistatic relationships when assessing MASLD risk and developing personalized therapeutic strategies, which could ease the future burden on healthcare systems.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13107761/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147343636","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":"The functional minisatellite at the 3'-UTR of SLC6A3/DAT1 and dementia spectrum disorders: an association study in a population of Central Italy.","authors":"Benedetta Torbidoni-Baldassari, Anna Giulia Guazzarini, Gabriele Rezza, Patrizia Bastiani, Roberta Cecchetti, Patrizia Mecocci, Valerio Napolioni","doi":"10.1186/s12920-026-02341-6","DOIUrl":"10.1186/s12920-026-02341-6","url":null,"abstract":"<p><p>BACKGROUND: Dementia comprises a spectrum of neurodegenerative disorders marked by progressive cognitive and behavioural decline, with Alzheimer’s disease (AD) being the most prevalent form. While several genetic factors have been implicated in AD pathogenesis, a significant portion of heritability remains unexplained. One potential contributor to this “missing heritability” is structural variation within non-coding regions, such as variable-number tandem repeats (VNTRs). This study investigated the 40-bp VNTR located in the 3’ untranslated region of the SLC6A3/DAT1 (henceforth referred to as DAT1) gene, a polymorphism previously associated with dopamine regulation and psychiatric conditions, for potential associations with dementia spectrum disorders and related neuropsychiatric phenotypes. METHODS: A cohort of 799 elderly individuals from Central Italy, including AD, mild cognitive impairment (MCI), mixed dementia, and control subjects, was genotyped for the DAT1 VNTR and the APOE alleles. Neuropsychiatric evaluation was performed using the Neuropsychiatric Inventory (NPI). RESULTS: No significant association was observed between DAT1-VNTR genotypes and any dementia diagnosis. However, neuropsychiatric analysis revealed significant associations between DAT1-VNTR genotypes and behavioural symptoms. Carriers of the short (*S) allele showed association with apathy (especially in the presence of APOE*4), irritability, and disinhibition. The *S/*S genotype was notably linked to elevated NPI scores for irritability and disinhibition. CONCLUSIONS: These findings suggest that while the DAT1 VNTR is not directly associated with dementia diagnoses, it may contribute to modulating neuropsychiatric symptoms across dementia types. The results emphasize the importance of investigating non-coding genetic variants and their interactions with established risk alleles, such as APOE*4. Larger studies are needed to validate these findings and explore the functional consequences of DAT1 variation in neurodegeneration. This work contributes to our understanding of the dopaminergic system’s influence on behavioural phenotypes in dementia. It warrants the VNTR as a candidate contributing to neuropsychiatric symptom variability in aging populations. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13064044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316249","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":"Single-cell RNA sequencing of adenoid cystic carcinoma of the breast reveals cellular heterogeneity and tumor microenvironment features.","authors":"Zhenning Tang, Jufen Zhao, Xiaoying Huang, Qingyuan Liu, Yuchen Wang, Chaolin Zhang, Ling Li","doi":"10.1186/s12920-026-02329-2","DOIUrl":"10.1186/s12920-026-02329-2","url":null,"abstract":"<p><p>BACKGROUND: Adenoid cystic carcinoma of the breast (ACCB) is a rare malignant tumor with distinct pathological features and a relatively favorable prognosis compared to other breast cancer subtypes, yet its molecular mechanisms remain poorly understood due to challenges in sample acquisition and targeted research. METHODS: In this study, we employed single-cell RNA sequencing (scRNA-seq) to systematically characterize the cellular heterogeneity and tumor microenvironment in ACCB. We obtained scRNAseq data from a single patient with ACCB and integrated it with publicly available datasets from head and neck adenoid cystic carcinoma (HNACC) and triple-negative breast cancer (TNBC). Through high-resolution gene expression profiling, cell clustering, differential expression analysis, and cell-cell communication analysis, we aimed to identify key malignant subpopulations and regulatory networks in ACCB. RESULTS: Unsupervised clustering revealed seven major cell types in the analyzed ACCB sample, including epithelial cells, fibroblasts, and immune cells. In-depth analysis of epithelial cells identified H19 + myoepithelial cells (H19 + myoEpC) as the dominant malignant subpopulation, enriched in ACCB compared to other cancers and characterized by high expression of oncogenic pathways and ligands such as LAMB1 and WNT6. Tumor-associated fibroblasts exhibited significant heterogeneity, with cancer-associated fibroblasts (CAFs) expressing EMT-related genes and interacting closely with H19 + myoEpC. The tumor microenvironment was immunosuppressive, with reduced infiltration of CD4 + and CD8 + T cells and B cells, and lacked classical Treg/Tex populations. Comprehensive cell-cell communication analysis showed that H19 + myoEpC orchestrated a signaling network with CAFs, immune cells, and endothelial cells, driving tumor progression and immune evasion. CONCLUSIONS: Our study provides the single-cell resolution map of ACCB from a representative case, highlighting the unique role of H19 + myoEpC in tumor progression and immune suppression. These findings offer new insights into the molecular classification of ACCB and potential therapeutic targets. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041279/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316242","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 a novel signature in progression of non-small cell lung cancer based on HdWGCNA and in vitro validation.","authors":"Kunpeng Zhang, Wenqiang Xia, Yi Li, Bowen Shi, Weiwei Yang","doi":"10.1186/s12920-026-02328-3","DOIUrl":"10.1186/s12920-026-02328-3","url":null,"abstract":"<p><p>BACKGROUND: Lung cancer is the predominant contributor to cancer-induced mortality, with non-small cell lung cancer (NSCLC) constituting the majority. However, the intricacies of tumorigenesis and progression in this context remain incompletely understood. METHODS: Utilizing single-cell RNA sequencing data retrieved from the GEO database, we performed high-dimensional weighted gene co-expression network analysis to identify pivotal gene modules exhibiting the highest correlation with the clinical stages of NSCLC patients. Subsequently, we formulated a novel prognostic three-gene signature, subjecting it to thorough analysis using bulk RNA sequencing data obtained from the TCGA-LUAD dataset. RESULTS: A tumor-intrinsic prognostic signature, comprising SEC61G, NPTN, and ALDOA, emerged from our investigation. The risk score derived from this gene signature revealed significantly poorer overall survival among patients in the high-risk group. Patients in different risk groups exhibited distinct immune statuses, with those in the low-risk group likely to benefit more from immunotherapy. Furthermore, in vitro experiments demonstrated that SEC61G facilitates tumor proliferation and migration with the activation of the WNT/β-Catenin signaling pathway. CONCLUSION: Our study unveiled a novel tumor-intrinsic gene signature, shedding light on improved prognostication for NSCLC and facilitating risk-stratified management. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13040712/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147301684","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":"Short-term exposure of sleep deprivation male model rats to dutasteride promotes the discovery of gene profiles related to fertility impairments.","authors":"Shengxiao Zhang, Wei Li, Guirong Zhang","doi":"10.1186/s12920-026-02336-3","DOIUrl":"10.1186/s12920-026-02336-3","url":null,"abstract":"<p><p>BACKGROUND: Fertility was impaired in sleep deprivation (SD) male rats. Dutasteride (DUT), a 5-α reductase inhibitor, also had negative effects on fertility, however, its definite mechanisms were still unknown. To this end, SD male model rats, exposed to DUT for a short period of time, were used to observe whether DUT would exacerbate fertility damage and further to explore the possible mechanism of its fertility damage effects. METHODS: Male rats were randomly divided into 3 groups: Model control (MC) group and the two model groups (i.e. SD group and DUT group). For model groups, the modified multi-platform method was used to model SD for 42 consecutive days. The rats in DUT group were administered by gavage at DUT doses of 20 mg-kg− 1 for 21 consecutive days. Whether the short-term administration of DUT would bring the aforesaid rats about fertility damage was confirmed by observing rats’ behavioral changes, detecting serum testosterone levels, testing sperm-related parameters, and pathological analysis of testicular and epididymal tissue changes. RNA sequencing (RNA-seq) was applied to explore the overall transcriptional profile of genes related to DUT-induced exacerbation of fertility impairment in SD model male rats. By analyzing the differentially expressed genes (DEGs) profiles among those groups, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were used to explore the gene profile associated with DUT promoting fertility impairments and further to find the mechanism of common fertility damages between SD and DUT. Finally, the transcription of key genes was verified by quantitative reverse transcription polymerase chain reaction (qRT-PCR). This experimental work was carried out in 2023–2024. RESULTS: After exposure to DUT, the rats had significantly changed sperm-related parameters and showed further aggravated gonadal tissue damage. Compared with the model control, the SD rats had 445 DEGs. And compared with the SD group, the DUT group had 477 DEGs. Ibsp, Runx1, Fgf18, Areg, Stat6, Mapk3, and Gng4 were screened as the hub genes by Cytohubba. 142 cross-DEGs were identified. Notably, Abca5 expression was continuously decreased in this exposure process. In the cross-DEGs, ABCA5 interacted indirectly with LOR, SLC22A2, PCARE and RCVRN by its family proteins. CONCLUSIONS: Short-term exposure to DUT aggravated the fertility impairment of SD rats and unique actions on the aforesaid hub genes might be one of the possible reasons. The 142 common fertility-impairing DEGs involved in immunological, neurological and metabolic aspects. The abnormal expression of Abca5 and its indirectly associated other cross-DEGs might be the important gene targets for fertility disorders in male rats. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13041066/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147301734","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":"Whole-exome sequencing for the genetic diagnosis of early-onset high myopia and associated hereditary eye disorders.","authors":"Chunxiao Han, Shanshan Wu, Yang Yang, Xiangchun Yang, Haibo Li","doi":"10.1186/s12920-026-02334-5","DOIUrl":"10.1186/s12920-026-02334-5","url":null,"abstract":"<p><p>BACKGROUND: Identification of genetic variations associated with early-onset high myopia (eoHM) provides a genetic basis for risk assessment and prevention of this disease. METHODS: Whole-exome sequencing (WES) was performed on 41 probands with eoHM with or without other abnormalities. RESULTS: Sixteen high myopia-associated variants identified in 13 probands involved 13 genes comprising 11 autosomal dominant and 2 X-linked genes. The frequency of variants in SNRNP200, ARR3, and COL2A1 was 13%, which was slightly greater than that of other genes. A total of 46% were associated with inherited retinal diseases documented in the RetNet database. According to the relevant guidelines and standards, 9.7%(4/41) of the probands had suspected genetic pathogenic variations through combined clinical-genetic assessment (ID2,3,8,11). Interestingly, we found that the genetic diagnosis rate was significantly correlated with the specific clinical phenotypic characteristics of the patients. The diagnosis rate of patients with ultrahigh myopia was significantly greater than that of patients with high myopia. CONCLUSIONS: Genetic analysis identified the pathogenic factors of many cases of eoHM, revealing a strong association between eoHM candidate genes and hereditary retinal diseases. EoHM is the predominant clinical presentation in most hereditary ocular diseases. </p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2026-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13040719/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147301699","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}