Egyptian Journal of Medical Human Genetics最新文献

{"title":"The evaluation of IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms in Egyptian patients with alopecia areata: a case–control study","authors":"Maged Mostafa, Marwa Zohdy, Maha Abdelsalam","doi":"10.1186/s43042-024-00558-7","DOIUrl":"https://doi.org/10.1186/s43042-024-00558-7","url":null,"abstract":"Alopecia areata (AA) is a non-scarring hair loss condition that usually affects the scalp. The exact pathogenesis is poorly understood; however, multiple factors like genetics, environmental, psychological, and immunological factors may have a role. The purpose of this study was to look into possible links between the functional interleukin-4 (IL-4) gene intron 3 variable number of tandem repeats (VNTR) and TNF-(rs1799964) gene polymorphism and AA susceptibility. This case–control study consisted of 79 unrelated patients and 156 age- and sex-matched healthy individuals as a control group. The Severity of Alopecia Tool was used to assess the extent of hair loss from the scalp. Polymerase chain reaction (PCR) with specific primers was used to determine IL-4 gene 70-bp VNTR polymorphism while polymerase chain reaction-restriction fragment length polymorphism (PCR–RFLP) was used to investigate TNF-α (rs1799964) gene polymorphism. None of the selected polymorphisms for both genotypes and alleles had statistical significance when patients and controls were compared with each other (p-values for IL-4 VNTR were 0.11, 0.74, 0.052 and 0.27 and for TNF-α polymorphism was 0.71, 0.43, 0.65 and 0.55, respectively, for codominant, dominant, recessive and overdominant models of inheritance, respectively). Furthermore, the same results were retrieved when the genotypes were compared with the patient’s clinical and demographic data (p-value > 0.05). The findings indicate that IL-4 VNTR intron 3 and TNF-α (rs1799964) gene polymorphisms are not linked to the development of AA in the Egyptian population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"94 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776356","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":"Computational analysis of the divergent neurotranscriptomic signatures of major depression and suicidality","authors":"M. J. Nishanth, S. Sai Karthick, Shanker Jha","doi":"10.1186/s43042-024-00559-6","DOIUrl":"https://doi.org/10.1186/s43042-024-00559-6","url":null,"abstract":"Suicide is a leading cause of death globally. Identifying individuals at higher suicidal risk is a key to suicide prevention. Patients with comorbid psychiatric disorders, especially major depressive disorder (MDD), are known to be highly prone to suicidality. However, the behavioural manifestations of MDD and suicidality are distinct, indicating potentially unique molecular underpinnings, of which our current understanding is limited. Delineating the unique and shared molecular etiologies of MDD and suicidality would be imperative to devise effective treatment strategies for suicidal behaviour. To this end, we analysed the existing literature pertaining to transcriptomic alterations in brain samples of individuals who died from MDD or by suicide. Subsequently, biological processes associated with the differentially expressed genes (DEGs) were identified. In addition, we also examined the transcriptional regulators (TRs) potentially driving cortical gene expression changes in MDD and suicidality. A set of immunological genes was found to be commonly upregulated in MDD but downregulated in suicide. Actin and cytoskeleton organization genes also had a similar trend. In addition, MDD-upregulated and suicide-downregulated genes were found to have overrepresented target sites for 40 TRs associated with epigenetic as well as polymerase-mediated regulation. Any variations in the levels of these TRs could be of behavioural consequence in MDD and suicidality. A clear understanding of the condition-specific neurotranscriptomic differences in MDD and suicidality would be valuable in order to delineate the biological mechanisms underlying these conditions. Importantly, it would provide insights into more effective treatment strategies for suicidality among individuals with or without MDD. However, we have yet to determine the molecular basis of suicidality in the context of MDD and as a standalone mental condition. In this regard, the present findings would be of scientific and clinical relevance and could stimulate further research.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"3 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776348","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":"Correction: A bioinformatics approach to reveal common genes and molecular pathways shared by cutaneous melanoma and uveal melanoma","authors":"Perumal Jayaraj, Tanisha Bhimwal, Khushneet Kaur, Kritika Gupta, Shreya Taluja, Anjali Priyadarshani","doi":"10.1186/s43042-024-00554-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00554-x","url":null,"abstract":"<p><b>Correction: Egyptian Journal of Medical Human Genetics (2024) 25:56</b> <b>https://doi.org/10.1186/s43042-024-00526-1</b></p><p>Following publication of the original article [1], the author informed that authors Khushneet Kaur and Shreya Taluja were incorrectly affiliated.</p><p>The incorrect affiliation is:</p><p>Khushneet Kaur—Department of Zoology, Kirori Mal College University of Delhi, Delhi 110007, India</p><p>Shreya Taluja—Department of Virology and Immunology, Amity University, Noida, India</p><p>The correct affiliation is:</p><p>Khushneet Kaur—Department of Virology and Immunology, Amity University, Noida, India</p><p>Shreya Taluja—Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>The original article has been corrected.</p><ol data-track-component=\"outbound reference\" data-track-context=\"references section\"><li data-counter=\"1.\"><p>Jayaraj P et al (2024) Egypt J Med Human Genet 25:56. https://doi.org/10.1186/s43042-024-00526-1</p><p>Article Google Scholar </p></li></ol><p>Download references<svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"><use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"></use></svg></p><h3>Authors and Affiliations</h3><ol><li><p>Department of Zoology, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>Perumal Jayaraj</p></li><li><p>Department of Zoology, University of Delhi, Delhi, 110007, India</p><p>Tanisha Bhimwal</p></li><li><p>Department of Virology and Immunology, Amity University, Noida, India</p><p>Khushneet Kaur & Kritika Gupta</p></li><li><p>Department of Biochemistry, Sri Venkateswara College, University of Delhi, Delhi, India</p><p>Shreya Taluja</p></li><li><p>Department of Zoology, Kirori Mal College University of Delhi, Delhi, 110007, India</p><p>Anjali Priyadarshani</p></li></ol><span>Authors</span><ol><li><span>Perumal Jayaraj</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Tanisha Bhimwal</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Khushneet Kaur</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Kritika Gupta</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Shreya Taluja</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li><li><span>Anjali Priyadarshani</span>View author publications<p>You can also search for this author in <span>PubMed<span> </span>Google Scholar</span></p></li></ol><h3>Corresponding author</h3><p>Correspondence to Anjali Priyadarshani.</p><h3>Publisher's Note</h3><p>Springer Nature remains neutral with regard to jurisdictio","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"131 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776357","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":"Study of the relationship between genetic variants of IL-18 and the occurrence of inflammatory bowel disease","authors":"Yahya Jaber Al-ardawy, Ali Hmood Al-Saadi, Mahmoud A. Alkindy, Ammar M. Al-Lsawi, Maksad A. Fadheel","doi":"10.1186/s43042-024-00555-w","DOIUrl":"https://doi.org/10.1186/s43042-024-00555-w","url":null,"abstract":"A member of the Interleukin-1 superfamily of cytokines, interleukin-18 (IL-18) is essential to the etiology and progression of inflammatory bowel disease (IBD), a chronic inflammatory illness that affects the digestive system. This study investigated the possible association between two genetic variations, IL-18 rs187238 and IL-18 rs1946518, and IBD in Iraqi patients. We evaluated the association of two SNPs of the IL-18 gene at rs187238 and rs1946518 in 54 IBD patients with 19 Crohn’s disease (CD), 35 ulcerative colitis (UC), and 46 healthy controls using PCR-RFLP and PCR-AS techniques for detecting IL-18 rs187238 and IL-18 rs1946518, respectively, by extracting genomic DNA from blood samples. Our findings indicated no statistically significant variations between the IL-18 rs187238 genotypes and incidences of CD and UC (P = 0.189 and 0.59, respectively). However, the allele frequency showed a significant difference with CD (P = 0.049) but did not show a significant association with UC (P = 0.887). There was no significant association between the genotype and allele frequency of IL-18 rs1946518C/A and CD risk (P = 0.171 and 0.053, respectively). However, there was a significant association between the genotype and allele frequency of IL-18 rs1946518C/A and the risk of developing UC (P = 0.028 and 0.002, respectively). The study revealed statistically significant distinctions between the genetic and allelic frequencies of IL-18 rs1946518 and the probability of developing UC. Nonetheless, there were no significant distinctions between them and CD. According to the research, there were no major differences between IL-18 rs187238 and the two diseases. The frequency of the C allele is connected to CD.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"44 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141776218","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":"Genetic association study for three single nucleotide polymorphisms related to type 2 diabetes in Egyptian population","authors":"Galena W. Zareef, Ibrahim M. Moatmed, Nourhan W. Shehata, Mohamed N. Saad, Olfat G. Shaker","doi":"10.1186/s43042-024-00546-x","DOIUrl":"https://doi.org/10.1186/s43042-024-00546-x","url":null,"abstract":"Diabetes mellitus is a disease that may result from interaction between environmental factors and a strong genetic component. The current study is aimed at exploring three single nucleotide polymorphisms to identify the associated ones with type 2 diabetes in the Egyptian society. The studied single nucleotide polymorphisms (rs10096097 in GOAT, rs6740584 in CREB1, and rs62521874 in MAFA) were examined via genotyping cases (n = 98) and irrelevant healthy subjects (n = 82). Associations were checked using dominant, recessive, genotypic, allelic, and Cochran–Armitage trend models. By comparing diabetic patients with controls, rs6740584 was associated with type 2 diabetes by employing all used models except the recessive model. Rs10096097 was connected with type 2 diabetes using the genotypic association, Cochran–Armitage trend test, and recessive model and not any other model. Rs62521874 was not linked with type 2 diabetes in all models. Moreover, haplotype association for rs10096097 and rs62521874 was conducted as these two single nucleotide polymorphisms were located on the same chromosome. The haplotype pattern rs10096097:G—rs62521874:A was identified as a biomarker for type 2 diabetes susceptibility in the Egyptian community. The GOAT and CREB1 polymorphisms showed susceptibility to type 2 diabetes. Moreover, MAFA had no role in the disease except through the haplotype with GOAT polymorphism.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"10 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574251","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":"Association of ARMS2, HTRA1 and CFH genes polymorphisms in patients with age-related macular degeneration in the Malaysian population","authors":"Fazliana Ismail, Sarni Mat Junit, Lee Ching Chin, Jaime Jacqueline Jayapalan, Visvaraja Subrayan","doi":"10.1186/s43042-024-00549-8","DOIUrl":"https://doi.org/10.1186/s43042-024-00549-8","url":null,"abstract":"Despite extensive research efforts, understanding the precise causes and molecular underpinnings of age-related macular degeneration (AMD) remains elusive. Exploring different populations becomes crucial to establish conclusive insights into the role of genetic factors in AMD. This study aimed to investigate the association between the well-documented major risk alleles in the HTRA1, ARMS2 and CFH genes with AMD in the Malaysian multi-ethnic population. A total of 205 subjects were enrolled in this study, 103 were diagnosed with AMD while 102 represented the control subjects. Genomic DNA was extracted from peripheral blood mononuclear cells and gene amplification was performed by polymerase chain reaction. Subsequently, genotyping for the HTRA1, ARMS2 and CFH genes was performed using direct DNA sequencing analysis. Significant associations (p < 0.05) were detected with AMD for both SNP rs11200638: G > A in the promoter of HTRA1 and rs10490924: G > T in ARMS2 but not for variant Y402H in CFH gene (p > 0.05) in our study population. The A allele frequency of rs11200638 in the HTRA1 promoter was 51.9% in cases versus 39.2% in controls (p = 0.010). The frequency of AA genotype was 28.2% for AMD cases, compared to 17.6% in controls (OR 2.58, 95% CI 1.19–5.58; p = 0.043). The frequency of the TT genotype of rs10490924 in ARMS2 was 25.2% in cases versus 8.8% in controls (OR 2.23, 95% CI 0.83–5.99; p = 0.002). The study reveals an association between specific genetic variants in the HTRA1 and ARMS2 genes and the occurrence of AMD in the Malaysian population. However, contrary to expectations, the study did not identify a substantial correlation between AMD and the Y402H variant of the CFH gene in this specific population.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"17 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574256","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":"Evaluation of serum MicroRNA 21, MicroRNA 192 and serum TGFβ1 in type 2 diabetes mellitus patients and their relation to diabetic nephropathy","authors":"Jumana Gamal Abou Eleila, Amal Abdel Wahab Mohamed, Emam Abdalatif Waked, Laila Nessim Kamel, Hanan Shawky Amin, Hadeel Mohammad Elhanafi","doi":"10.1186/s43042-024-00544-z","DOIUrl":"https://doi.org/10.1186/s43042-024-00544-z","url":null,"abstract":"Diabetic nephropathy (DN) is a frequent and long-lasting microvascular consequence that has an established connection with diabetes. It serves as the primary etiological agent of end-stage renal disease, a critical renal disorder that develops on a worldwide level. The molecular pathophysiology of DN is multifactorial, such as transforming growth factor-beta [TGF-β] which affects the expression of miRNAs such as miRNA-21 and miRNA-192 during renal fibrosis. However, to date, the clinical application is inadequate due to discrepancies observed in the published data. This cross-sectional investigation aimed to assess the correlation between serum TGF-β1, miRNA-21 and 192, and glycemic control, metabolic abnormalities, and renal function in patients with type II diabetes. Based on the albumin/creatinine ratio (ACR), fifty subjects with type II diabetes were divided into three categories: Group I consisted of individuals with normoalbuminuria (n = 16), Group II of microalbuminuria (n = 16), and Group III of overt proteinuria (n = 18). All participants were subjected to the estimation of mature miRNA-21 and miRNA-192 by TaqMan two-step stem loop qRT-PCR and serum TGFβ1 level by ELISA. There was an upregulation in miRNA-21 expression in the 3 different groups of patients (p value = 0.043). The serum fold change (FC) of miRNA-21 showed significantly greater median values in patients with overt proteinuria compared to those with normoalbuminuria (5.57 FC versus 1.11 FC, p = 0.017). A positive correlation (r = 0.343) (p = 0.013) was observed between the ACR and the median levels of miRNA-21, which was statistically significant. No statistically significant distinctions were detected in the concentrations of serum TGF-β1 or miRNA-192 among the three patient groups (p values of 0.234 and 0.225, respectively). The findings of the present research implied that miRNA-21 might function as an early indicator of renal pathology associated with diabetes mellitus (DM).","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"48 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141574249","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":"Serum mir-31-5p is a reliable biomarker in patients with oral squamous cell carcinoma and oral lichen planus","authors":"Nooshin Mohtasham, Zahra Ghorbani, Hossein Ayatollahi, Fatemeh Arab, Seyed Hamid Aghaee-Bakhtiari, Bashir Rasoulian, Farnaz Mohajertehran","doi":"10.1186/s43042-024-00531-4","DOIUrl":"https://doi.org/10.1186/s43042-024-00531-4","url":null,"abstract":"MicroRNAs have been proposed as a novel regulatory biomarker for gene expression and early diagnosis of cancers. In this study, we evaluate the expression level of miR-31-5p in the serum of patients with oral squamous cell carcinoma, oral lichen planus, and a healthy control group to obtain a primary diagnostic biomarker. Serum was collected from patients with oral lichen planus (n = 32), patients with oral squamous cell carcinoma (n = 35), and healthy subjects (n = 32). MicroRNA was isolated from serum and cDNA was made from it. Then, the quantitative and qualitative expression of miR-31-5p levels among the samples was checked by the qRT-PCR method. In this study, three groups were quantitatively and qualitatively analyzed for miR-31-5p expression in serum. The results showed that there was a statistically significant correlation between the mean quantitative and qualitative expression of miR-31-5p among the three groups (P < 0.05). The expression of miR-31-5p was significantly higher in patients with oral squamous cell carcinoma and oral lichen planus compared with healthy controls. MiR-31-5p can be considered as a biomarker in serum that could be potentially reliable in the diagnosis and prognosis of oral squamous cell carcinoma and also in the transformation of lichen planus.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"131 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546482","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 cost-efficient algorithm for diagnosing children with dysmorphic features","authors":"Mariya Levkova, Milena Stoyanova, Mari Hachmeriyan, Lyudmila Angelova","doi":"10.1186/s43042-024-00545-y","DOIUrl":"https://doi.org/10.1186/s43042-024-00545-y","url":null,"abstract":"It is crucial to create a cost-effective work protocol that will guide everyone involved in diagnosing children with dysmorphic features step-by-step and ensure that testing costs are reduced without compromising care quality in light of the rising prevalence of rare diseases and congenital malformations. Based on our own experience, we offer an effective approach for identifying children with dysmorphic traits. Following a thorough medical history and physical examination utilizing the dysmorphology checklist we created, the patient should have their photographs taken. The second step involves using face recognition software and searching dysmorphology databases for a matching diagnosis. The final two steps of the suggested protocol are ordering the molecular-genetic analysis and providing genetic counseling. The suggested approach could help in everyday practice and reduce unnecessary testing. It takes significant clinical expertise and knowledge to correctly diagnose a syndrome, especially the capacity to recognize the particular dysmorphic symptoms that can be typical for a given genetic disorder. The suggested dysmorphology checklist could be extremely helpful for routine daily practice.","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"3 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141546483","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":"Correction: Emanuel syndrome due to unusual pattern","authors":"Hala T. El-Bassyouni, Engy A. Ashaat, Khaled Hamed, Maha R. Abouzaid, Azza E. Abd-Elnaby, Marwa Shehab","doi":"10.1186/s43042-024-00548-9","DOIUrl":"https://doi.org/10.1186/s43042-024-00548-9","url":null,"abstract":"&lt;p&gt;&lt;b&gt;Correction: Egyptian Journal of Medical Human Genetics (2024) 25:21&lt;/b&gt; &lt;b&gt;https://doi.org/10.1186/s43042-024-00494-6&lt;/b&gt;&lt;/p&gt;&lt;p&gt;Following publication of the original article [1], the authors identified an error in the author name of Maha R. Abouzaid.&lt;/p&gt;&lt;p&gt;The incorrect name is: Maha Rashed&lt;/p&gt;&lt;p&gt;The correct name is: Maha R. Abouzaid&lt;/p&gt;&lt;ol data-track-component=\"outbound reference\" data-track-context=\"references section\"&gt;&lt;li data-counter=\"1.\"&gt;&lt;p&gt;El-Bassyouni HT et al (2024) Emanuel syndrome due to unusual pattern. Egypt J Med Hum Genet 25:21. https://doi.org/10.1186/s43042-024-00494-6&lt;/p&gt;&lt;p&gt;Article Google Scholar &lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;p&gt;Download references&lt;svg aria-hidden=\"true\" focusable=\"false\" height=\"16\" role=\"img\" width=\"16\"&gt;&lt;use xlink:href=\"#icon-eds-i-download-medium\" xmlns:xlink=\"http://www.w3.org/1999/xlink\"&gt;&lt;/use&gt;&lt;/svg&gt;&lt;/p&gt;&lt;h3&gt;Authors and Affiliations&lt;/h3&gt;&lt;ol&gt;&lt;li&gt;&lt;p&gt;Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, P.O. 12622, Cairo, Egypt&lt;/p&gt;&lt;p&gt;Hala T. El-Bassyouni, Engy A. Ashaat &amp; Khaled Hamed&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;p&gt;Orodental Genetics Department, National Research Centre, Giza, Egypt&lt;/p&gt;&lt;p&gt;Maha R. Abouzaid&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;p&gt;Cytogenetics Department, National Research Centre, Giza, Egypt&lt;/p&gt;&lt;p&gt;Azza E. Abd-Elnaby &amp; Marwa Shehab&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;span&gt;Authors&lt;/span&gt;&lt;ol&gt;&lt;li&gt;&lt;span&gt;Hala T. El-Bassyouni&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Engy A. Ashaat&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Khaled Hamed&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Maha R. Abouzaid&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Azza E. Abd-Elnaby&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;li&gt;&lt;span&gt;Marwa Shehab&lt;/span&gt;View author publications&lt;p&gt;You can also search for this author in &lt;span&gt;PubMed&lt;span&gt; &lt;/span&gt;Google Scholar&lt;/span&gt;&lt;/p&gt;&lt;/li&gt;&lt;/ol&gt;&lt;h3&gt;Corresponding author&lt;/h3&gt;&lt;p&gt;Correspondence to Engy A. Ashaat.&lt;/p&gt;&lt;h3&gt;Publisher's Note&lt;/h3&gt;&lt;p&gt;Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Open Access&lt;/b&gt; This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwi","PeriodicalId":39112,"journal":{"name":"Egyptian Journal of Medical Human Genetics","volume":"14 1","pages":""},"PeriodicalIF":1.3,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141513074","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}