Egyptian Journal of Medical Human Genetics最新文献

{"title":"Inhibition of SOX2 mitigates vascular calcification mediated by autophagy through Wnt signaling pathway","authors":"Hui Xiang, Jie Hong, Yingli Zhang, Cong Zeng, Na Wu","doi":"10.1186/s43042-025-00822-4","DOIUrl":"https://doi.org/10.1186/s43042-025-00822-4","url":null,"abstract":"Abstract Background SRY-box transcription factor 2 ( SOX2 ) is implicated in diverse pathological conditions; however, its contribution to vascular calcification (VC) is not well define. This research explored the influence of SOX2 on VC and associated molecular mechanisms utilizing a β-Glycerophosphate (β-GP)-driven calcification model in human aortic vascular smooth muscle cell (HA-VSMC). Results One in vitro VC model was established by exposing HA-VSMCs to β-GP. The experimental design comprised several key groups: an untreated control, a β-GP-induced calcification model group, a group receiving β-GP and SOX2 -targeting siRNA (si- SOX2 ), a group treated with β-GP and 3-Methyladenine (3-MA), an autophagy inhibitor, and a group co-treated with β-GP, si- SOX2 , and the Wnt pathway activator BML-284. Relative to controls, the β-GP model group exhibited increased calcification, elevated protein levels of SOX2 and osteogenic markers (Runx2, BMP2), enhanced autophagic activity, reduced expression of contractile markers (SM22α, α-SMA), and suppression of Wnt pathway signaling. Transfection with si- SOX2 significantly counteracted these β-GP-induced alterations. Conversely, the beneficial impact of si- SOX2 on β-GP-induced VC was negated by BML-284-mediated activation of the Wnt pathway. Conclusion The findings indicate that suppressing SOX2 alleviates β-GP-induced VC by influencing the activation status of the Wnt pathway.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1186/s43042-025-00822-4.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147909487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Title of study: Genotypic and metabolic implications of tumor necrosis factor-α (TNF-α) −1031 (T/C) polymorphism in Kashmiri women with polycystic ovary syndrome (PCOS): a case–control study","authors":"Syed Douhath Yousuf, Fouzia Rashid, Mohammad Afzal Zargar, Syed Mudassar, Khalid Ul Islam, Salfiya Masarat Nazir, Aaqib Bashir Bhat, Mohammad Ashraf Ganie","doi":"10.1186/s43042-025-00778-5","DOIUrl":"https://doi.org/10.1186/s43042-025-00778-5","url":null,"abstract":"Abstract Background Polycystic ovary syndrome (PCOS) is a chronic inflammatory disease characterized by a hyperandrogenic state, irregular menses, and polycystic ovaries (PCO). Tumor necrosis factor-alpha (TNF-α), a key pro-inflammatory cytokine, plays a significant role in this process of inflammation. Studying TNF-α polymorphisms is important as genetic variations may influence TNF-α expression, potentially affecting individual susceptibility to disease and its severity. The −1031 (T > C) single-nucleotide polymorphism (SNP) in the TNF-α has been linked to inflammatory and metabolic disorders, but its association with PCOS, particularly in Kashmiri population, is not well explored. Objectives The objective of the study was to assess the impact of −1031 (T > C) SNP in the TNF-α on the vulnerability of PCOS in women from Kashmir and to find out its correlation with clinical, hormonal, and metabolic parameters. Methods This study enrolled 210 PCOS patients and 203 age and body mass index (BMI) matched healthy controls. Genotyping of −1031 (T > C) SNP was performed using the restriction fragment length polymorphism (RFLP) method. Biochemical, hormonal, and metabolic profiles were investigated. The study primarily employed Chi-square tests, t tests, and ANOVA. Results TC genotype was significantly more frequent in PCOS cases (43.8%) vs. controls (21.6%) [odds ratio (OR) = 2.81; 95% confidence interval (CI) 1.83–4.33; p = 0.001)]. The C allele frequency was higher in cases (21.9%) vs. controls (10.83%) (OR = 2.30; 95% CI 1.56–3.40; p = 0.001). TC genotype carriers showed higher fasting insulin, homeostasis model assessment insulin resistance index (HOMA-IR), triglyceride levels, and reduced quantitative insulin sensitivity check index (QUICKI), indicating insulin resistance (IR) ( p < 0.05). Conclusion The −1031 (T > C) SNP in the TNF-α gene is significantly associated with increased susceptibility to PCOS in Kashmiri women, with the TC genotype linked to higher insulin resistance and adverse metabolic parameters.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1186/s43042-025-00778-5.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147906428","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the effects of alpha-pinene on apoptosis induction in human colon cancer cells via the PI3K/AKT signaling pathway: an in vitro study","authors":"Sara Shafieipour, Yasaman Zamanian, Elham Hadipour, Reza Sinaei, Seyedeh Mahdieh Khoshnazar","doi":"10.1186/s43042-025-00656-0","DOIUrl":"https://doi.org/10.1186/s43042-025-00656-0","url":null,"abstract":"Abstract Background Colorectal carcinoma ranks as the second most prevalent neoplasm in females and the third most prevalent in males. Methods In this investigation, we examined the influence of alpha-pinene (ALP), classified as a monoterpene, on the proliferation of HT-29 human colorectal carcinoma cells via the PI3K/AKT signaling cascade. HT-29 cells were exposed to a range of ALP concentrations. The survival rate of the cells was assessed through the MTT assay; while, apoptotic events were evaluated using flow cytometry in conjunction with Annexin V/PI staining. Additionally, cell cycle dynamics were scrutinized through fluorescence-activated cell sorting. The expression levels of Bax, Bcl-2, Caspase-3, PI3K, and AKT at both the gene and protein levels were quantified employing real-time PCR and western blot techniques. Results ALP treatment led to a significant, dose-dependent decrease in cell viability, with prolonged exposure exacerbating cytotoxic effects. Apoptosis analysis showed that ALP significantly increased apoptotic cells after 24 h of treatment. Cell cycle analysis showed that ALP induces G2/M phase arrest and inhibits cell proliferation and DNA synthesis. Gene expression analysis revealed upregulation of pro-apoptotic genes Bax and caspase-3 and decreased anti-apoptotic gene Bcl-2. Furthermore, the administration of ALP led to a notable reduction in both the gene and protein expression levels of PI3K and Akt, suggesting a suppression of the PI3K/Akt signaling cascade. Conclusion ALP inhibits HT-29 colon cancer cell growth by reducing cell viability, inducing apoptosis, and blocking the PI3K/AKT pathway. These findings highlight ALP’s potential as a therapeutic candidate for colorectal cancer.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"26 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://link.springer.com/content/pdf/10.1186/s43042-025-00656-0.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147898559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cellulose acetate electrophoretic separation of serum and urine proteins in Nigerian children with autism spectrum disorders","authors":"Mudathir A. Adewole, Ishiaq O. Omotosho, Ayodeji O. Olanrewaju, Yetunde C. Adeniyi","doi":"10.1186/s43042-024-00576-5","DOIUrl":"https://doi.org/10.1186/s43042-024-00576-5","url":null,"abstract":"Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by social communication challenges and restricted, repetitive behaviors. While genetic and environmental factors are known to contribute to ASD, the role of the immune system remains unclear. This study investigated the separation patterns of serum and urine proteins in Nigerian children with ASD compared to typically developing children and children with other NDDs. Forty-seven participants aged 3–8 years were recruited, including 16 children diagnosed with ASD and 16 children with other NDDs, both according to DSM-5 criteria, along with 15 neurotypical children. Blood and urine samples were collected for protein analysis. Total protein and albumin levels were measured in both serum and urine using established methods. Protein separation in serum and urine was performed using cellulose acetate electrophoresis, followed by densitometry analysis of the electrophoretic patterns. The results revealed no significant differences in total serum protein levels and most protein fractions between the groups. However, children with other NDDs exhibited significantly lower levels of alpha-2 globulin compared to neurotypical children. Conversely, both ASD and NDD groups showed significantly higher gamma globulin levels compared to the control group. Interestingly, spot urine protein levels were significantly higher in children with ASD compared to neurotypical children. The observed changes in alpha-2 and gamma globulin levels suggest potential immune system involvement in ASD and other NDDs. The higher urine protein excretion in the ASD group warrants further investigation to explore the potential of urinary protein biomarkers for ASD diagnosis.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"29 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142258522","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":"Investigation of the expression of long non-coding RNA in Parkinson’s disease","authors":"Mehrdokht Mazdeh, Mohsen Khosravi Farsani, Alireza Komaki, Mohammad Mehadi Eftkharin","doi":"10.1186/s43042-024-00509-2","DOIUrl":"https://doi.org/10.1186/s43042-024-00509-2","url":null,"abstract":"Parkinson’s disease is the second most common age-related neurodegenerative disease after Alzheimer’s. Pathogenic factors in Parkinson’s include inflammation and oxidative stress, which lead to dopaminergic cell apoptosis. The case–control study aims to determine the expression level of long non-coding RNAs (lncRNAs) of the apoptosis pathway in Parkinson’s patients compared to healthy individuals. In the case–control study, 50 patients with Parkinson’s disease were examined, along with 50 healthy individuals matched in age and sex. In both groups, the expression of long non-coding RNAs, including taurine upregulated 1 (TUG1), metastasis-associated lung adenocarcinoma transcript 1 (MALAT1), nuclear-enriched abundant transcript 1 (NEAT1), and growth arrest-specific 5 (GAS5), was compared using real-time polymerase chain reaction (PCR). The ratio of MALAT1, NEAT1, and TUG1 gene expression in the case group was statistically significantly higher than in healthy individuals. The ratio of GAS5 gene expression in people with Parkinson’s disease was lower, with a statistically significant difference. The ratio of HULC gene expression was higher in the case group, but it did not show a statistically significant difference with the control group. The involvement of long lncRNAs that increase apoptosis may play a role in the pathogenesis of the disease, which may be used for identification and therapeutic purposes.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"32 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142269343","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":"Corneal microstructural changes of precise CHST6 gene mutation: a case series","authors":"Durga Murugan, Senthil Kumar Babu, Ezhil Vendhan Kalaimamani, Kamaraj Raju","doi":"10.1186/s43042-024-00577-4","DOIUrl":"https://doi.org/10.1186/s43042-024-00577-4","url":null,"abstract":"Macular corneal dystrophy (MCD) is an inherited, autosomal recessive disorder of defective keratan sulfate (KS) metabolism. It is caused by the mutations in carbohydrate sulfotransferase 6 gene (CHST6) which is essential for the sulfation of KS. Unlike the western world, MCD is the most common corneal stromal dystrophy in India, especially in south Indian population; it could be due to high frequency of consanguineous marriages. This study presents the clinical findings of one North Indian MCD family, including 6 patients and 3 unaffected relatives. We used slit lamp examination and in vivo confocal microscopy for assessment. Mutation screening was performed with Sanger sequencing, and corneal structure was analyzed through histochemistry and immunohistochemistry. Our comparative findings revealed that all the patients identified with the deletion of major portion of CHST6 that included the Open Reading Frame (ORF). Although all the patients showed significantly reduced central corneal thickness (CCT-250 μm), a drastic decrease in stromal keratocyte count, and depletion of Bowman’s layer compared to controls. This study first time revealed that MCD patients from one family with a deletion of major portion of CHST6 that included ORF leads to severe corneal morphological changes.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"21 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142258521","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 of novel likely pathogenic variant in CDH23 causing non-syndromic hearing loss, and a novel variant in OTOGL in an extended Iranian family","authors":"Aliasgar Mohammadi, Marziyeh Hoseinzadeh, Sina Narrei, Mohammad Reza Pourreza, Yousof Mohammadi, Mahnaz Norouzi, Ladan Sadeghian, Mohammad Amin Tabatabaiefar","doi":"10.1186/s43042-024-00578-3","DOIUrl":"https://doi.org/10.1186/s43042-024-00578-3","url":null,"abstract":"Sensorineural hearing loss (SNHL) is a clinically and genetically heterogeneous group of disorders of the auditory system. SNHL can occur as a symptom in more than 400 syndromes, and mutations in more than 150 genes can lead to SNHL. Mutations in the GJB2 and GJB6 genes are among the most common causes of SNHL worldwide. Mutations in Cadherin 23 (CDH23) can cause Usher syndrome and/or non-syndromic hearing loss (NSHL). In this study, the Whole Exome Sequencing (WES) was used to detect the cause of hearing loss in a large consanguineous Iranian family with two patients. All family members underwent a thorough Genotype–phenotype correlation assessment and co-segregation analysis to understand the inheritance pattern within the family. The candidate variants were further confirmed by Sanger sequencing. In addition, in silico analysis was performed to predict the functional impact of the variants; the interpretation of the variants was performed in accordance with the American College of Medical Genetics (ACMG) guidelines. WES results identified two novel variants, a homozygous missense variant in CDH23 (c.2961T > G) and a heterozygous splice site variant in OTOGL that was compatible with the autosomal recessive pattern of inheritance. Bioinformatics studies confirmed the pathogenic effects of novel variants. The c.2961T > G variant was classified as likely pathogenic. The novel identified variant in the CDH23 was the cause of congenital profound progressive form of HL. Samples were not available from the second family to distinguish which variant is responsible for the molecular pathology of the disease. Further studies and functional examinations are suggested for investigating the role of OTOGL: c. 1863-1G > T in deafness.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"23 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142258561","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":"Mutational landscape of BRCA gene mutations in Indian breast cancer patients: retrospective insights from a diagnostic lab","authors":"Rosy Chikkala, Deepak Bhayal, Nikki Rani, Rama Modali, Kishor Bhatia, Bhawna Dubey","doi":"10.1186/s43042-024-00567-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00567-6","url":null,"abstract":"Presence of Germline mutations in the BRCA1 and BRCA2 genes is the most significant epidemiological factor for breast cancer (BC), where germline BRCA1 (gBRCA 1) mutation increases the risk for BC by 59–87% and gBRCA 2 mutation increases the risk by 38–80%. In this retrospective study, we have analyzed NGS-based genetic data for samples received at our laboratory for genetic testing over a three-year period to understand the prevalence and pattern if any of BRCA1 and BRCA2 mutations in Indian breast cancer patients. BRCA gene sequencing using NGS was performed in 395 consecutive cases of BC referred for testing to our lab between 2021 and 2023. Genetic analysis of mutations BRCA 1 and BRCA 2 genes resulted in 115 (29%) positive patients. Out of 115 patients, 79 reported BRCA1 mutations, whereas 36 had BRCA2 mutations. Exon 10 (57.3%) of BRCA1 and exon 11 (52%) of BRCA2 were the most mutated exons observed in this study. The c.1961delA (26.4%) variant, followed by the c.68_69delAG (22.7%) variant in BRCA1, and the c.6373delA (20.5%) variant in BRCA2, were the most common mutations found in our study. Our data shows positive correlation of younger age group (20–45 years) with BRCA positive status (Chi-square p value = 0.001). BRCA mutation prevalence was 29.1% in our data which is higher than Western countries. Based on our findings BRCA screening looks imperative for women with BC especially younger women (< 50 years), as family history based BRCA testing would miss out many BRCA positive candidates which could benefit from PARP therapy options.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"10 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142177440","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":"Comprehensive analysis of an mRNA co-expression network and a ceRNA network reveals potential prognostic biomarkers in oral squamous cell carcinoma","authors":"Liming He, Zhisheng Jiang, Yijun Gao, Yiyu Zeng, Wenhui Ge, Yi Yu, Xiaoyan Xie","doi":"10.1186/s43042-024-00574-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00574-7","url":null,"abstract":"Oral squamous cell carcinoma (OSCC) is a prevalent and aggressive oral cancer with a poor prognosis. Its polygenic risk is likely influenced by complex transcriptional disorders involving networks of co-expressed and functionally related genes, though such investigations are limited in OSCC. We analyzed the GSE37991 dataset, comprising 40 OSCC and 40 normal oral tissue samples from the Gene Expression Omnibus. Tumor-specific modules were identified using weighted correlation network analysis (WGCNA), leading to the selection of hub mRNAs and lncRNAs. These lncRNAs were used to construct lncRNA–mRNA and competing endogenous RNA networks. We further examined the expression profiles and survival data of these genes from the Cancer Genome Atlas. Prognostic markers were identified and validated through 5-year survival analysis and Cox proportional hazards modeling. RT-qPCR was used to validate the expression levels in clinical OSCC tissues. We identified 1847 differentially expressed genes in OSCC tissues. WGCNA revealed four OSCC-specific modules, screening 120 hub mRNAs and five hub lncRNAs. Two prognostic markers (AQP5, IL-26) from hub mRNAs and three (FRMD5, INHBB, GUCY1A3) from the lncRNA–mRNA network were associated with survival. Validation showed lower expression of AQP5 and GUCY1A3, and higher expression of FRMD5 and INHBB in OSCC compared to normal tissues. This study enhances our understanding of transcriptional dysregulation in OSCC and may highlights AQP5, IL-26, FRMD5, INHBB, and GUCY1A3 as promising prognostic biomarkers.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"16 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142177471","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":"Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication","authors":"Rita Quental, Diana Pinho, Natália Tkachenko, Diana Gonzaga, Maria do Céu Mota, Cristina Garrido, Carla Carmona, Sofia Quental, Ana Maria Fortuna, Célia Azevedo Soares","doi":"10.1186/s43042-024-00575-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00575-6","url":null,"abstract":"Neurofibromatosis type 1 (NF1), an autosomal dominant disorder, characterized by a spectrum of diverse neurocutaneous manifestations, is caused by heterozygous pathogenic variants in NF1 gene. While patients with NF1 often exhibit characteristic features, atypical phenotypes can arise, necessitating consideration of differential diagnoses or concurrent pathologies. A seven-year-old boy with suspected NF1 underwent clinical evaluation. He presented hallmark café-au-lait spots, axillary freckling, and neurofibromas. Neuroimaging revealed a cranial plexiform neurofibroma. Additionally, he exhibited attention-deficit hyperactivity disorder and developmental delay. Genetic testing identified an Alu insertion variant within the NF1 gene, and subsequent array comparative genomic hybridization detected a 16p13.11 duplication. This case underscores the intricate molecular bases of NF1 by identifying a rare Alu insertion variant. The patient's neurocognitive challenges and dysmorphic features prompted exploration of a potential overlapping genetic condition. Coexisting genetic disorders have been documented in NF1 patients, emphasizing the necessity of discerning atypical manifestations. The observed 16p13.11 duplication likely contributes to the patient's phenotype, enhancing the precision of diagnosis, prognosis, and genetic counseling.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"1741 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-09-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142177441","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}