Human Gene最新文献

{"title":"Identification of key protein-coding genes, lncRNAs and their regulatory network associated with the progression of lung adenocarcinoma in humans","authors":"Aparna Chaturvedi ,&nbsp;Arindam Ghosh ,&nbsp;Anup Som","doi":"10.1016/j.humgen.2024.201368","DOIUrl":"10.1016/j.humgen.2024.201368","url":null,"abstract":"<div><div>Lung adenocarcinoma (LUAD) is an aggressive subtype of non-small cell lung cancer (NSCLC) known for its high propensity for early metastasis and rapid progression, often leading to late-stage diagnosis and poor prognosis. This cancer type frequently spreads to distant organs, including the brain, liver, and bones, contributing to its high mortality rate among lung cancer subtypes. Therefore, effective strategies need to be developed for early detection and prognosis of LUAD. Transcriptomic advancements have helped in better prognosis by analyzing the complex interplay among protein-coding and non-coding genes across various cancers. However, the regulatory mechanisms and the interactions between the coding and non-coding elements involved in LUAD progression is poorly understood. In this quest, we used weighted gene co-expression network analysis (WGCNA) approach on RNA-Seq data and identified a set of protein-coding genes (PCGs) and lncRNAs that are crucial for the development of LUAD. Further, we derived the networks of PCGs with lncRNAs at the mRNA (i.e., transcriptional) and protein (i.e., post-transcriptional) levels. Our analysis revealed 405 PCGs as the candidate biomarkers among which ADAMTS8, PECAM1, RGCC, and TCF21 were detected as key PCGs. Gene ontology and pathway analysis suggested angiogenesis as the crucial pathway regulated by the candidate biomarkers. BANCR was the only lncRNA among those analyzed that showed both differential expression in tumor tissues and a significant association with better survival, making it a promising candidate for further investigation as a prognostic biomarker in LUAD. Further, we identified MALAT1-TCF21-NORAD-SELP-BANCR-KLF2, as the key regulatory mechanism through which BANCR might be regulating the LUAD progression.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201368"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143787","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential modifier genes for cystic fibrosis disease","authors":"Hajra Aqeel ,&nbsp;Muhammad Usman Ghani ,&nbsp;Zartashay Naeem ,&nbsp;Farheena Iqbal Awan ,&nbsp;Muhammad Umer Khan ,&nbsp;Shazia Tanveer ,&nbsp;Nauman Chaudary ,&nbsp;Rehan Sadiq Shaikh","doi":"10.1016/j.humgen.2025.201377","DOIUrl":"10.1016/j.humgen.2025.201377","url":null,"abstract":"<div><h3>Background</h3><div>Cystic Fibrosis (CF) is a genetic disease caused primarily by mutations in the <em>CFTR</em> gene. However, CF patients with the same mutations in the CFTR gene can manifest the disease with varying severity, likely due to the role of modifier genes.</div></div><div><h3>Methodology</h3><div>To uncover the underlying non-<em>CFTR</em> genetic factors, we compiled a list of CF modifier genes through an extensive literature review and conducted pathway enrichment analysis using ENRICHR and DAVID tools to understand their biological significance and functional roles in CF disease. We also used the STRING tool to explore the protein-protein interaction of genes identified by pathway enrichment analysis with the CFTR gene.</div></div><div><h3>Results</h3><div>The literature review identified 36 CF modifier genes: <em>GSTM1, IL10, SLC26A9, IL1B, MUC6, CLC-2, CXCL8/IL8, EDNRA, DCTN4, SLC9A3, ADRB2, AGER, EZR, HLAII, HFE, CFTR, IFRD1, CAV1, PRKAR2B, PPP2R4, MBL2, EHF, SCNN1A, SERPINA1, AHSAI, SNAP23, SCNN1B, SCNN1G, PRSS8, SLC9A3R1/NHERF1, KRT19, Nedd4L, TGFB1, CALR, SLC6A14, MMP9 and MIF.</em> Pathway enrichment analysis predicted three key pathways linked to CF and enriched with 13 modifier genes. Furthermore, the STRING tool predicted that six out of the thirteen modifier genes (SLC9A3R1, EZR, ADRB2, SERPINA1, IL1B, and IFRD1<em>)</em> interact with <em>CFTR</em>, indicating a complex network of functional relationships supported by various evidence.</div></div><div><h3>Conclusion</h3><div>This research identified 36 modifier genes associated with cystic fibrosis, alongwith three key pathways enriched with 13 of these genes. Six of these genes were found to have a complex network of interactions with CFTR genes, highlighting their probable role as CF modifier genes.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201377"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Downregulation of miR-1269a pronounces breast cancer bone metastasis","authors":"Smit Patel ,&nbsp;Ishita Agarwal ,&nbsp;Nishita Adnani ,&nbsp;Deepshikha Rathore ,&nbsp;Nandani Dharwal ,&nbsp;Nirali Shukla ,&nbsp;Heena V. Dave","doi":"10.1016/j.humgen.2025.201380","DOIUrl":"10.1016/j.humgen.2025.201380","url":null,"abstract":"<div><div>Breast cancer (BC) is the most prevalent cancer among women globally. Metastasis poses a significant challenge for BC patients and its complete mechanism is yet to be discovered. Bone is one of the most common sites for metastasis in BC patients, making early diagnosis of bone metastasis necessary. To identify potential biomarkers for early diagnosis, we analyzed transcriptomic data from The Cancer Genome Atlas (TCGA) database, focusing on differentially expressed microRNAs. Among the screened miRNAs, miR-1269a was significantly downregulated based on log2 FC ±2 and adjusted <em>p</em>-value ≤0.05. Receiver operating curve (ROC) analysis revealed that miR-1269a could effectively distinguish between bone-metastatic and primary breast cancer patients. Additionally, we found a significant downregulation of miR-1269a in metastatic breast cancer cells (MDA-MB-231) compared to non-metastatic breast cancer cells (MCF-7). TargetScan and miRDB were used to identify targets of miR-1269a, leading to a focus on cyclin D1 (CCND1), a cell cycle regulator gene, significantly overexpressed in primary breast cancer patients. Overall, this study uncovers the unique role of hsa-miR-1269a as a biomarker associated with the biological and transcriptional processes in bone metastasis in breast cancer. The study also identifies a novel miRNA-mRNA axis, miR-1269a-CCND1, which possesses a potential biomarker role in BC patients with Bone metastasis.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201380"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144019","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A higher proportion of craniosynostosis genes are cancer driver genes","authors":"Suchir Misra ,&nbsp;Andrew Shih ,&nbsp;Xiao-Jie Yan ,&nbsp;Wentian Li","doi":"10.1016/j.humgen.2025.201378","DOIUrl":"10.1016/j.humgen.2025.201378","url":null,"abstract":"<div><div>Craniosynostosis (CS) is a congenital abnormality deformity with a heterogeneous genetic contribution. There were previously two attempts to collect genes that are genetically associated with craniosynostosis and some related syndromes with 57 (<span><span>Twigg and Wilkie, 2015</span></span>), 39 (<span><span>Goos and Mathijssen, 2019</span></span>) genes identified, respectively. We expanded this list of craniosynostosis genes by adding another 17 genes with an updated literature search, plus 7 more from a recent update (<span><span>Tooze et al., 2023</span></span>), leading to a combined of 120 genes. These genes are shown to be more likely to be intolerant to functional mutations. Of these 120 craniosynostosis genes, 32 (26.7 % vs. 3.5 % baseline frequency) are cancer driver genes, a 7.6-fold enrichment. The cancer-craniosynostosis connection is further validated by an over-representation analysis of craniosynostosis genes in KEGG cancer pathway and several cancer related gene-sets. Many cancer-craniosynostosis overlapping genes participate in intracellular signaling pathways, which play a role in both development and cancer. This connection can be viewed from the “oncogenesis recapitulates ontogenesis” framework. Twenty-five craniosynostosis genes are transcription factor genes (20.8 % vs. 10.3 % baseline), and craniosynostosis genes are also enriched in targets of certain transcription factors or micro RNAs.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201378"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Phenotype-cytogenetic correlation in partial trisomy 13q and trisomy 18p resulting from maternal origin","authors":"Maha M. Eid ,&nbsp;Ola M. Eid ,&nbsp;Amal M. Mohamed ,&nbsp;Asia E. Abdelghany ,&nbsp;Rania M.A. Abdel Kader ,&nbsp;Mohamed B. Taher ,&nbsp;Mohammed M. Sayed-Ahmed ,&nbsp;Ghada M.H. Abdel Salam ,&nbsp;Hanan H. Afifi","doi":"10.1016/j.humgen.2025.201388","DOIUrl":"10.1016/j.humgen.2025.201388","url":null,"abstract":"<div><div>A 7-day-old female neonate presented with dysmorphic features and multiple congenital anomalies displaying bilateral microphthalmia, congenital heart disease and postaxial polydactyly. Additionally, the brain MRI showed Dandy-Walker malformation, agenesis of corpus callosum, ventriculomegaly and hypoplastic brainstem. G-banded chromosome analysis showed that the child was 47,XX,t(13;18),+mar. Chromosome analysis of the parents showed that the father had a normal karyotype and that the mother had a balance between 13 and 18.</div><div>MLPA and array CGH showed that the chromosome marker was derived from 18p and 13q. array CGH revealed that the patient had partial trisomy 13q14.3q34 (53,057,362-115,107,733)x3 and partial trisomy 18p11.32p11.21(263,821-14,058,294)x3. This neonate is the first to be liveborn with a condition in which partial trisomy 13q and trisomy 18p coexist. The infant developed hydrocephalus and died at 7 months of age. This report demonstrates that array CGH is a valuable diagnostic tool in determining the origin of additional small genetic materials. Proper genetic and prenatal counseling is very important for future family planning.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201388"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143403351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification and functional characterization of two novel SRD5A2 variants in Iranian siblings with 5α-reductase type 2 deficiency: Expanding the mutational spectrum and implications for genetic diagnosis","authors":"Mahtab Ordooei ,&nbsp;Nasrin Zamani ,&nbsp;Bahareh Rabbani ,&nbsp;Nejat Mahdieh","doi":"10.1016/j.humgen.2025.201389","DOIUrl":"10.1016/j.humgen.2025.201389","url":null,"abstract":"<div><div>Disorders of sex development (DSD) represent a diverse group of congenital conditions that disrupt the typical development of sexual tissues due to various genetic anomalies. Among these, 5α-reductase type 2 deficiency, caused by mutations in the <em>SRD5A2</em> gene, impairs the conversion of testosterone to dihydrotestosterone (DHT), essential for male genital differentiation. In this study, we describe two sisters from an Iranian consanguineous family, both presenting with 46,XY DSD due to two novel variants in <em>SRD5A2</em> gene.</div><div>Clinical evaluations, biochemical testing, and karyotyping were conducted for the patients. Clinical evaluations, including karyotyping and biochemical analyses, revealed a 46,XY karyotype and significantly elevated testosterone-to-DHT ratios in both patients, raising suspicion of 5α-reductase deficiency. The coding regions of the <em>SRD5A2</em> gene were sequenced for the affected siblings and their parents, and a thorough search using targeted keywords was conducted to identify previously reported intronic variants in this gene.</div><div>Molecular genetic testing identified two novel homozygous variants in the <em>SRD5A2</em> gene: c.314G&gt;C, p.(Arg105Thr) and c.445+5G&gt;C. Segregation analysis confirmed that the parents were heterozygous carriers for these variants. In silico predictions and bioinformatics analyses suggest that the p.(Arg105Thr) variant destabilizes the protein structure, alters its charge, and increases its molecular flexibility, likely contributing to the disease phenotype. Additionally, the c.445+5G&gt;C variant, located within a splice motif, may disrupt normal splicing, further implicating it in the pathogenesis of the disorder. To date, twelve intronic variants have been reported in <em>SRD5A2</em>, suggesting that intronic mutations may significantly impact its function.</div><div>This study underscores the importance of early genetic diagnosis in DSD, particularly in populations with high rates of consanguinity, to enable timely intervention. The novel variants reported here expand the mutational spectrum of <em>SRD5A2</em> and highlight the utility of comprehensive genetic and bioinformatic analyses in understanding the molecular underpinnings of DSD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201389"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143377829","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring preservation of autism spectrum disorder dysregulated co-expression modules in accessible cell models","authors":"Camily E.F. Rodrigues,&nbsp;Bruna G.G. Pinto,&nbsp;Karina Griesi-Oliveira","doi":"10.1016/j.humgen.2024.201366","DOIUrl":"10.1016/j.humgen.2024.201366","url":null,"abstract":"<div><div>Introduction: Autism spectrum disorder (ASD) affects more than 1 % of the population, and there is no biomarker to diagnose this condition. Dysregulation of co-expressed gene modules has been observed in neuronal cells of ASD individuals, suggesting that the expression profile of these genes could be used as a biomarker for the disorder. Brain tissue biopsy is impractical, and neuron acquisition through cell reprogramming is resource-intensive. Objectives: Identify accessible cell models reflecting co-expression modules that are dysregulated in ASD neuronal cells. Methods: Three groups of neuronal modules previously implicated in ASD (synapse, immune response, and translation modules) were assessed for preservation in transcriptomes from peripheral blood, urine-derived epithelial cells (UEC), umbilical cord blood (UCB) and dermal papilla stem cells (DPSC), using WGCNA (weighted gene co-expression analysis). Results: Thirteen studies (blood [5], UEC [2], DPSC [2], UCB [4]) were analyzed. The ASD-associated modules related to translation and immune response have showed a consistent moderate preservation in UEC and blood transcriptome studies. Despite moderate preservation, validation analysis using ASD blood transcriptome data revealed no significant differences between ASD individuals and controls. This result may be explained by the lack of preservation in selected studies, potentially influenced by technical factors. Our findings suggest that further validation is necessary, particularly focusing on protocol consistency and data processing, as accessible tissues like UEC and blood may offer a promising direction for developing non-invasive biomarkers for ASD.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201366"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143784","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upregulated expression of DDR2 and MYLK correlates with poor prognosis in colorectal tumours","authors":"Steffie Urmila Avanthi ,&nbsp;Sonali Mondkar ,&nbsp;Venkat Rao G ,&nbsp;Pradeep Rebala ,&nbsp;Sanjeev M. Patil ,&nbsp;Mahesh Shetty ,&nbsp;Mitnala Sasikala ,&nbsp;Anuradha Sekaran ,&nbsp;Nageshwar Reddy D ,&nbsp;Rajasekhar Pinnamaneni ,&nbsp;Ravikanth Vishnubhotla","doi":"10.1016/j.humgen.2024.201358","DOIUrl":"10.1016/j.humgen.2024.201358","url":null,"abstract":"<div><h3>Background</h3><div>Optimal response to conventional treatment strategies in treating colorectal cancer (CRC) is not attained in a substantial proportion of patients. This leads to unnecessary side effects, higher risk of recurrence ultimately leading to a poor 5-year survival. Instead, targeting upregulated genes with known functions in tumour progression/recurrence with approved drugs may be a superior alternate to minimize the risk of progression. We therefore performed global gene expression in tumours with CRC, identified upregulated genes, shortlisted and replicated 3 genes with approved drugs in an independent cohort.</div></div><div><h3>Materials and methods</h3><div>A total of 123 tumours with colorectal cancer were collected in RNALater from patients undergoing treatment primarily by surgery after obtaining written informed consent. RNA was isolated (Qiagen RNAeasy), assessed for quality and transcriptome sequencing (<em>N</em> = 20) performed on Illumina HiSeqX. Data were analysed using The Galaxy platform and dysregulated genes identified. Approved drugs for the upregulated genes were retrieved from The Drug Gene Interaction Database. Relative gene expression of top three upregulated genes (<em>DDR2, AXL</em> and <em>MYLK</em>) were replicated in an independent tumour cohort (<em>N</em> = 103). Control tissues (<em>N</em> = 5) were collected from patients undergoing surgery for reasons other than malignancy.</div></div><div><h3>Results</h3><div>The mean age of the study group was 54.98 ± 11.80 years that predominantly (75.67 %) comprised of males. Most of the tumours were in the ascending colon (30.10 %) or in rectosigmoid (29.13 %), moderately differentiated adenocarcinomas (77.67 %) in the 2 A stage (46.60 %) or 3B stage (41.75 %). While, 24/103 (23.30 %) tumours showed upregulation of <em>DDR2</em>, 18 (17.47 %) and 16 (15.53 %) tumours showed upregulation of <em>AXL</em> and <em>MYLK</em> genes respectively. Upregulation of <em>DDR2</em> and <em>MYLK</em> genes were associated with presence of tumour deposits (OR– 4.86; 95 % CI: 1.83–12.94; <em>p</em> = 0.001 and OR– 2.73; 95 % CI: 0.87–8.55; <em>p</em> = 0.08 respectively).</div></div><div><h3>Conclusion</h3><div>We demonstrate the upregulation of <em>DDR2</em> and <em>MYLK</em> genes in a sizeable proportion of tumours that were associated with tumour deposits. Tumour deposits are associated with poor prognosis and therefore targeting the tumours with specific approved drugs might reduce the risk of progression and benefit the patient.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201358"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"MALAT1 and BCYRN1 lncRNAs expression in patients with breast cancer from Northwest Iran","authors":"Alireza Ahmadi,&nbsp;Amin Moqadami,&nbsp;Mohammad Khalaj-Kondori,&nbsp;Mohammad Ali Hosseinpour Feizi","doi":"10.1016/j.humgen.2024.201370","DOIUrl":"10.1016/j.humgen.2024.201370","url":null,"abstract":"<div><h3>Introduction</h3><div>Abnormally expressed lncRNAs in cancer tissues can potentially play as biomarkers for cancer diagnosis, prognosis, and treatment. This study aimed to assess the expression and biomarker potential of <em>MALAT1</em> and <em>BCYRN1</em> in breast cancer (BC).</div></div><div><h3>Methods</h3><div>Seventy paired samples of cancerous and non-cancerous adjacent tissues from breast cancer patients were collected and used for RNA extraction and cDNA synthesis. The expressions of <em>MALAT1</em> and <em>BCYRN1</em> lncRNAs were evaluated by qRT-PCR. In addition, the correlation between the expression levels of <em>MALAT1</em> and <em>BCYRN1</em> was investigated.</div></div><div><h3>Results</h3><div>The qRT-PCR results revealed that <em>MALAT1</em> and <em>BCYRN1</em> levels were considerably elevated in tumor tissues compared to the marginal samples of BC patients. Furthermore, <em>MALAT1</em> expression was extremely correlated with tumor stages (<em>p</em> = 0.031). ROC curve analysis indicated that <em>BCYRN1</em> might be considered a potential biomarker for BC, while <em>MALAT1</em> showed poor results in this study. In addition, there was a statistically non-significant positive correlation between <em>MALAT1</em> and <em>BCYRN1</em> expression levels.</div></div><div><h3>Conclusion</h3><div>In conclusion, the expression levels of <em>MALAT1</em> and <em>BCYRN1</em> lncRNAs were significantly upregulated in breast cancer tissues compared to normal margins.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201370"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143143808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Facial dysmorphia and genetic disorders in Moroccan children early diagnosis and the role of advanced genetic techniques","authors":"Asmaa Gaadi ,&nbsp;Sara Missaoui ,&nbsp;Hind Dehbi ,&nbsp;Ahmed Aziz Bousfiha ,&nbsp;Mouna Lehlimi","doi":"10.1016/j.humgen.2025.201383","DOIUrl":"10.1016/j.humgen.2025.201383","url":null,"abstract":"<div><h3>Background</h3><div>Genetic diseases pose significant challenges in populations with limited access to advanced diagnostic tools. This study focuses on rare congenital malformations in pediatric cases, emphasizing facial dysmorphia as a crucial indicator for early diagnosis and genetic counseling.</div></div><div><h3>Methods</h3><div>A three-year retrospective study was conducted at the Neonatology Service of the Abderrahim Harouchi Mother and Child Hospital in collaboration with the Department of Medical Genetics. Ten cases were selected for detailed analysis. Advanced genetic diagnostic techniques, including karyotyping, FISH, CGH-array, and whole genome sequencing (WGS), were employed to identify underlying genetic anomalies.</div></div><div><h3>Results</h3><div>Among the 10 analyzed cases, four were from consanguineous families. Genetic anomalies identified included ring chromosome 9, Wolf-Hirschhorn syndrome, and a novel homozygous pathogenic mutation in the <em>FREM1</em> gene. Each diagnosis led to targeted therapeutic interventions tailored to the clinical and genetic findings.</div></div><div><h3>Conclusion</h3><div>This study underscores the importance of advanced genetic diagnostic techniques and a multidisciplinary approach in managing congenital malformations. Early and precise identification of genetic anomalies is essential for improving patient outcomes and offering effective genetic counseling, particularly in regions with a high prevalence of genetic disorders.</div></div>","PeriodicalId":29686,"journal":{"name":"Human Gene","volume":"43 ","pages":"Article 201383"},"PeriodicalIF":0.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143144017","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}