BMC Medical Genomics最新文献

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Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing. 利用胚泡废培养基对非整倍体进行无创着床前基因检测,可作为传统着床前基因检测中滋养外胚层活检的补充。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-21 DOI: 10.1186/s12920-025-02106-7
Songchang Chen, Li Wang, Yuting Hu, Yaxin Yao, Fangfang Gao, Chunxin Chang, Lanlan Zhang, Hefeng Huang, Daru Lu, Chenming Xu
{"title":"Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing.","authors":"Songchang Chen, Li Wang, Yuting Hu, Yaxin Yao, Fangfang Gao, Chunxin Chang, Lanlan Zhang, Hefeng Huang, Daru Lu, Chenming Xu","doi":"10.1186/s12920-025-02106-7","DOIUrl":"10.1186/s12920-025-02106-7","url":null,"abstract":"<p><strong>Background: </strong>To investigate whether the noninvasive preimplantation genetic testing (niPGT) complement conventional preimplantation genetic testing (PGT) in the embryos for aneuploidy.</p><p><strong>Results: </strong>40 spent culture medium (SCM) samples from routine embryo culture were collected, and half of each SCM (10 µL) sample was used for whole genome amplification, while the other half was stored at -80 °C for 3-6 months. Thirty-six out of 40 fresh SCM samples were successfully amplified and sequenced. Thirty-six paired frozen-thawed SCM samples showed 100% concordance with the freshly amplified SCM samples. Then, SCM and trophectoderm (TE) samples from 149 blastocysts from 51 couples were collected. A 98.0% successful SCM sample amplification rate (146/149) was achieved. For the 146 paired TE biopsy and SCM samples, the overall concordance rate was 82.9% (121/146). Ten embryos with aneuploid TE results but euploid niPGT results were donated. A 70.0% (7/10) true negative rate was achieved by niPGT with respect to the inner cell mass (ICM) results (TE-positive embryos).</p><p><strong>Conclusions: </strong>These results suggested that SCM stored at -80 °C for 6 months without affecting niPGT results based on NICSInst amplification.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"34"},"PeriodicalIF":2.1,"publicationDate":"2025-02-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11846158/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143472109","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}
引用次数: 0
Comprehensive pan-cancer analysis of HSPG2 as a marker for prognosis. HSPG2作为预后指标的综合泛癌分析。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-17 DOI: 10.1186/s12920-025-02103-w
Fangjun Chen, Xing Gu, Guangliang Qiang
{"title":"Comprehensive pan-cancer analysis of HSPG2 as a marker for prognosis.","authors":"Fangjun Chen, Xing Gu, Guangliang Qiang","doi":"10.1186/s12920-025-02103-w","DOIUrl":"10.1186/s12920-025-02103-w","url":null,"abstract":"<p><strong>Background: </strong>In recent years, several studies have shown that HSPG2 is associated with the prognosis of specific cancers. The aim of this study was to investigate the prognostic value of HSPG2 in pan-cancer and to analyze its possible mechanisms.</p><p><strong>Methods: </strong>We used The Cancer Genome Atlas (TCGA) and Genotype-Tissue Expression (GTEx) to explore the expression of HSPG2 in 33 tumors and corresponding controls. Univariate Cox regression and Kaplan-Meier survival analysis were applied to detect the effects of HSPG2 on overall survival (OS), disease-specific survival (DSS), and progression-free interval (PFI) in patients with these tumors, and to analyze the relationship between HSPG2 and clinical characteristics. And we further analyzed the relationship between HSPG2 and immune infiltration, DNA methylation and single cell function. And GO and KEGG enrichment analyses were performed using HSPG2 co-expressed genes. Finally, we explored the diagnostic efficacy of HSPG2 for diseases of interest and validated it using qPCR experiment.</p><p><strong>Results: </strong>HSPG2 was lowly expressed in 17 cancers and highly expressed in 11 cancers, and was correlated with patient's clinical characteristics in many cancers. Multivariate regression analysis showed that HSPG2 was an independent prognostic factor for DSS, OS, and PFI in bladder urothelial carcinoma (BLCA) and Mesothelioma (MESO). HSPG2 was correlated with DNA methylation, single-cell function, and immune infiltration in a variety of cancers. HSPG2 exhibited a good diagnostic efficacy for BLCA and MESO. qPCR and western blot results showed that HSPG2 expression was increased in mesothelioma compared to normal controls.</p><p><strong>Conclusion: </strong>These findings suggest that HSPG2 could be considered as a potential diagnostic and prognostic marker for BLCA and MESO.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"33"},"PeriodicalIF":2.1,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11831783/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432286","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}
引用次数: 0
Analysis of ferroptosis-related genes in cerebral ischemic stroke via immune infiltration and single-cell RNA-sequencing. 通过免疫浸润和单细胞rna测序分析缺血性脑卒中中铁中毒相关基因。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-11 DOI: 10.1186/s12920-025-02098-4
Wei Fan, Jinhua Zheng, Fangchao Jiang
{"title":"Analysis of ferroptosis-related genes in cerebral ischemic stroke via immune infiltration and single-cell RNA-sequencing.","authors":"Wei Fan, Jinhua Zheng, Fangchao Jiang","doi":"10.1186/s12920-025-02098-4","DOIUrl":"10.1186/s12920-025-02098-4","url":null,"abstract":"<p><p>Ischemic stroke (IS) represents a harmful neurological disorder with limited treatment options. Ferroptosis accounts for the iron-dependent, nonapoptotic cell death pattern, which shows the feature of fatal lipid ROS accumulation. Nonetheless, ferroptosis-related biomarkers for identifying IS early are currently lacking. The present study focused on investigating the possible ferroptosis-related biomarkers for IS and analyzing their effects on immune infiltration. Altogether five hub differentially expressed ferroptosis-related genes (DEFRGs) were identified from the relevant databases. Additionally, single-cell RNA-sequencing (seq) analysis was conducted for the comprehensive mapping of cell populations based on the IS database. These five hub DEFRGs were analyzed using gene set enrichment analysis, miRNA prediction, and single-cell RNA-seq analysis. A transient middle cerebral artery occlusion mouse model was constructed. We also adopted bioinformatics methods combined with western blot, changes to mitochondria, hematoxylin & eosin staining, Nissl staining, ROS fluorescence staining, immunohistochemistry, and quantitative real-time polymerase chain reaction (qRT-PCR) to show the involvement of ferroptosis in IS progression. The results revealed that nuclear factor erythroid-derived 2-like 2 (Nfe2l2) was the potential candidate biomarker for IS diagnosis, and ferroptosis may be suppressed via the Nfe2l2/HO-1 pathway. Thus, drug targeting Nfe2l2 can shed novel lights on IS treatment.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"31"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817822/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397806","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}
引用次数: 0
The association between rs2228226 and postoperative clinical outcomes in gastric adenocarcinoma: a retrospective study. rs2228226与胃腺癌术后临床结局的相关性:一项回顾性研究
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-11 DOI: 10.1186/s12920-025-02102-x
Haowen Wu, Xinxiong Li, Yuan Dang, Yawei Zhang, Zaizhong Zhang, Bowen Zhang, Qinglong Cai, Lie Wang, Meiping Wang, Chunhong Xiao
{"title":"The association between rs2228226 and postoperative clinical outcomes in gastric adenocarcinoma: a retrospective study.","authors":"Haowen Wu, Xinxiong Li, Yuan Dang, Yawei Zhang, Zaizhong Zhang, Bowen Zhang, Qinglong Cai, Lie Wang, Meiping Wang, Chunhong Xiao","doi":"10.1186/s12920-025-02102-x","DOIUrl":"10.1186/s12920-025-02102-x","url":null,"abstract":"<p><strong>Background: </strong>This study aims to investigate the differences in postoperative prognosis associated with the single nucleotide polymorphism (SNP) rs2228226 (G > C) in gastric adenocarcinoma (GAC) patients.</p><p><strong>Methods: </strong>This study enrolled 661 patients with locally advanced (pT4a) GAC after surgery. DNA was extracted from their tissues and genotyped for rs2228226 using a MassARRAY Analyzer. Based on the patients' clinical and pathological information, a multifactorial Cox regression analysis was performed to assess the correlation between rs2228226 and the clinical prognosis of pT4a GAC patients. Survival differences among patients who received postoperative chemotherapy were also examined according to rs2228226.</p><p><strong>Results: </strong>After excluding patients with distant metastasis, loss to follow-up, and those not meeting the inclusion criteria, a total of 463 patients with complete data were included. The rs2228226 genotype distribution was as follows: C/C = 57 (12.3%), G/C = 200 (43.2%), and G/G = 206 (44.5%). Patients with the C/C genotype had significantly shorter disease-free survival (DFS = 12 months) and overall survival (OS = 27 months) compared to those with the G/C or G/G genotype (DFS = 19 months, log-rank P = 0.003; OS = 35 months, log-rank P = 0.002). Further analysis of patients receiving chemotherapy identified the C/C genotype, advanced age, lymph node metastasis, degree of differentiation, and failure to achieve R0 resection as independent risk factors for tumor recurrence and metastasis (P < 0.05). The C/C genotype, lymph node metastasis, and tumor recurrence and metastasis were independent risk factors for mortality (P < 0.05).</p><p><strong>Conclusions: </strong>In pT4a GAC patients undergoing postoperative chemotherapy, the C/C genotype at rs2228226 is an independent risk factor for tumor recurrence, metastasis, and death. The rs2228226 (G > C) polymorphism may serve as a potential biomarker for predicting prognosis after chemotherapy in GAC.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"32"},"PeriodicalIF":2.1,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11817046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143397773","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}
引用次数: 0
The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes. 候选遗传多态性在covid-19易感性和结局中的作用
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-07 DOI: 10.1186/s12920-025-02094-8
Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K Zgheib
{"title":"The role of candidate genetic polymorphisms in covid-19 susceptibility and outcomes.","authors":"Anthony Yazbeck, Reem Akika, Zainab Awada, Nathalie K Zgheib","doi":"10.1186/s12920-025-02094-8","DOIUrl":"10.1186/s12920-025-02094-8","url":null,"abstract":"<p><strong>Background: </strong>This study aims to investigate the association between candidate host genetic polymorphisms and COVID-19 susceptibility, severity, hospitalization, hypoxia, and their combined effect, measured by the polygenic risk score (PRS).</p><p><strong>Methods: </strong>Three hundred and seventy-six Lebanese participants, comprising 151 controls and 225 cases, were included. Clinical data were obtained from questionnaires and medical records. DNA isolated from peripheral blood was genotyped for ACE1 rs1799752, ACE2 rs2074192, TMPRSS2 rs75603675 and OAS1 rs107746771 using TaqMan assays, and for TMPRSS2 rs35074065 using Sanger Sequencing. Candidate genetic variants were analyzed in association with COVID-19 susceptibility, severity, hospitalization and hypoxia, using univariate and multivariate models. PRS constructed from the weighted sum of variants was evaluated in association with COVID-19 outcomes.</p><p><strong>Results: </strong>In this study, there were no statistically significant differences in the frequencies of candidate variant alleles between cases, controls and within disease outcomes subgroups, after adjustment for confounders. PRS was not associated with COVID-19 susceptibility and hospitalization, it however significantly predicted COVID-19 severity (P = 0.01).</p><p><strong>Conclusion: </strong>This study highlights the importance of genetic testing for key host genes involved in COVID-19 life cycle and eventually measuring the PRS which proves to be an important tool for prognosis assessment in vulnerable individuals, potentially enhancing patient care.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"30"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806658/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370370","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}
引用次数: 0
Causal relationship between educational attainment and the occurrence of venous thromboembolism. 教育程度与静脉血栓栓塞发生的因果关系。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-07 DOI: 10.1186/s12920-025-02092-w
Sitong Guo, Sitao Tan, Shiran Qin, Dandan Xu, Henghai Su, Xiaoyu Chen
{"title":"Causal relationship between educational attainment and the occurrence of venous thromboembolism.","authors":"Sitong Guo, Sitao Tan, Shiran Qin, Dandan Xu, Henghai Su, Xiaoyu Chen","doi":"10.1186/s12920-025-02092-w","DOIUrl":"10.1186/s12920-025-02092-w","url":null,"abstract":"<p><strong>Background: </strong>The association between educational attainment (EA) and arterial thrombotic disease has been reported, but the causal relationship between EA and venous thromboembolism (VTE) is not clear. We aimed to assess the causal effect of EA on VTE using the two-sample mendelian randomization (MR) method.</p><p><strong>Methods: </strong>Data mining was conducted on the genome wide association studies (GWAS), with exposure factor EA and outcome factor VTE. Two-sample Mendelian Randomization (TSMR) analysis was conducted, with the results obtained from the random effects inverse variance weighted method (IVW). Use the MR-Egger method for pleiotropy analysis and leave one method for sensitivity analysis to verify the reliability of the data.</p><p><strong>Results: </strong>Genetically predicted decreased EA was associated with a decreased risk of VTE in both the FinnGen consortium and UK Biobank (FinnGen-VTE: OR = 0.848; 95% CI 0.776-0.927; P = 2.84 × 10<sup>-4</sup>; UKB-VTE OR = 0.996; 95% CI 0.994-0.999; P = 0.008) under a multiplicative random-effects IVW model. Results were consistent in all sensitivity analyses and no horizontal pleiotropy was detected.</p><p><strong>Conclusions: </strong>The MR technique instructed a potential inverse causative relationship between EA and occurrence of VTE. Therefore, patients with low EA should be more vigilant about the occurrence of VTE.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"28"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11803988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370368","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}
引用次数: 0
Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases. 33079例罕见常染色体三体无创产前检查产前诊断及妊娠结局分析
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-07 DOI: 10.1186/s12920-025-02099-3
Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang
{"title":"Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.","authors":"Xu Yan, Kai Ding, Xin Zhang, Shuai Zhang, Haiying Peng, Ying Zhang","doi":"10.1186/s12920-025-02099-3","DOIUrl":"10.1186/s12920-025-02099-3","url":null,"abstract":"<p><strong>Background: </strong>Non-invasive prenatal testing is widely used for screening common fetal aneuploidy disorders such as trisomy 21, trisomy 18, and trisomy 13. However, its ability to detect rare autosomal trisomies has introduced a new layer of complexity and clinical uncertainty.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on the prenatal diagnostic results and pregnancy outcomes of cases identified as high-risk for rare autosomal trisomies through non-invasive prenatal testing at the reproductive medicine center, Renmin hospital, Hubei university of medicine, from 2015 to 2023.</p><p><strong>Results: </strong>66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. Prenatal diagnostic procedures did not confirm the presence of the corresponding rare autosomal trisomy in any of these cases. Among the 66 cases of rare autosomal trisomies (RATs), 5 cases were lost to follow-up, and 1 case underwent termination of pregnancy (TOP) for personal reasons, leaving 60 cases with valid pregnancy outcomes. Of these 60 valid outcomes, 50 (83.33%) resulted in full-term births, while 10 (16.67%) experienced adverse pregnancy outcomes.</p><p><strong>Conclusion: </strong>Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. However, adverse pregnancy outcomes such as preterm birth, fetal demise, placental abnormalities, and intrauterine growth restriction are common and should be given clinical attention and consideration.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"29"},"PeriodicalIF":2.1,"publicationDate":"2025-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11806773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143370366","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}
引用次数: 0
Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach. 用于多种癌症检测和胃癌筛查的循环microRNA面板:利用网络生物学方法。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-06 DOI: 10.1186/s12920-025-02091-x
Leila Kamkar, Samaneh Saberi, Mehdi Totonchi, Kaveh Kavousi
{"title":"Circulating microRNA panels for multi-cancer detection and gastric cancer screening: leveraging a network biology approach.","authors":"Leila Kamkar, Samaneh Saberi, Mehdi Totonchi, Kaveh Kavousi","doi":"10.1186/s12920-025-02091-x","DOIUrl":"10.1186/s12920-025-02091-x","url":null,"abstract":"<p><strong>Background: </strong>Screening tests, particularly liquid biopsy with circulating miRNAs, hold significant potential for non-invasive cancer detection before symptoms manifest.</p><p><strong>Methods: </strong>This study aimed to identify biomarkers with high sensitivity and specificity for multiple and specific cancer screening. 972 Serum miRNA profiles were compared across thirteen cancer types and healthy individuals using weighted miRNA co-expression network analysis. To prioritize miRNAs, module membership measure and miRNA trait significance were employed. Subsequently, for specific cancer screening, gastric cancer was focused on, using a similar strategy and a further step of preservation analysis. Machine learning techniques were then applied to evaluate two distinct miRNA panels: one for multi-cancer screening and another for gastric cancer classification.</p><p><strong>Results: </strong>The first panel (hsa-miR-8073, hsa-miR-614, hsa-miR-548ah-5p, hsa-miR-1258) achieved 96.1% accuracy, 96% specificity, and 98.6% sensitivity in multi-cancer screening. The second panel (hsa-miR-1228-5p, hsa-miR-1343-3p, hsa-miR-6765-5p, hsa-miR-6787-5p) showed promise in detecting gastric cancer with 87% accuracy, 90% specificity, and 89% sensitivity.</p><p><strong>Conclusions: </strong>Both panels exhibit potential for patient classification in diagnostic and prognostic applications, highlighting the significance of liquid biopsy in advancing cancer screening methodologies.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"27"},"PeriodicalIF":2.1,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11804061/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143363505","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}
引用次数: 0
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa. 致病性COL7A1变异在营养不良大疱性表皮松解症中表现出半显性遗传。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-04 DOI: 10.1186/s12920-024-02077-1
Saira Sattar, Thashi Bharadwaj, Umm-E- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M Leal, Isabelle Schrauwen
{"title":"A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosa.","authors":"Saira Sattar, Thashi Bharadwaj, Umm-E- Kalsoom, Anushree Acharya, Saadullah Khan, Suzanne M Leal, Isabelle Schrauwen","doi":"10.1186/s12920-024-02077-1","DOIUrl":"10.1186/s12920-024-02077-1","url":null,"abstract":"<p><p>Dystrophic epidermolysis bullosa is a rare subtype of inherited epidermolysis bullosa, caused by variants in the collagen type VII alpha 1 chain (COL7A1) gene (MIM120120). Both autosomal dominant and recessive inheritance has been reported with variable phenotype. We investigated a Pakistani family with dystrophic epidermolysis bullosa via exome sequencing and identified a pathogenic nonsense variant in COL7A1 NM_000094 c.1573 C > T:p.(Arg525*). The inheritance pattern observed was consistent with a semi-dominant model, where heterozygous parents exhibited a mild phenotype, and homozygous children were more severely affected. For dystrophic epidermolysis bullosa, loss-of-function variants are typically associated with the autosomal recessive form, while missense variants are linked to the autosomal dominant form. A review of the literature suggests a semi-dominance pattern for some missense variants, particularly glycine substitutions, but this concept had not been formally recognized. This study highlights the importance of considering semi-dominant inheritance models for dystrophic epidermolysis bullosa and other Mendelian diseases with an autosomal recessive mode of inheritance, as it can significantly impact diagnosis and genetic counseling.</p>","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"26"},"PeriodicalIF":2.1,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11796174/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143187963","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}
引用次数: 0
Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report. 更正:高钙血症和共同发生的TBX1突变糖原储存病Ib型:病例报告。
IF 2.1 4区 医学
BMC Medical Genomics Pub Date : 2025-02-03 DOI: 10.1186/s12920-025-02095-7
Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila El Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal
{"title":"Correction: Hypercalcemia and co-occurring TBX1 mutation in Glycogen Storage Disease Type Ib: case report.","authors":"Zakaria Kasmi, Imane Ain El Hayat, Zahra Aadam, Abderrahmane Errami, Ibtihal Benhsaien, Jalila El Bakkouri, Dalal Ben Sabbahia, Meryem Atrassi, Ahmed Aziz Bousfiha, Fatima Ailal","doi":"10.1186/s12920-025-02095-7","DOIUrl":"10.1186/s12920-025-02095-7","url":null,"abstract":"","PeriodicalId":8915,"journal":{"name":"BMC Medical Genomics","volume":"18 1","pages":"25"},"PeriodicalIF":2.1,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11792362/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143121980","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}
引用次数: 0
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