Egyptian Journal of Medical Human Genetics

30/09/2025

Open calls for papers

GWAS Discoveries and Genomic Risk in Human Disorders

Editors: Dr. Jia Cheng, Dr. Jinming Han, Dr. Zhiwen Luo, Prof. Christian Obirikorang, Dr. Loo Keat Wei

Short list of topics of interest:

Identification of disease-associated loci in complex diseases

SNP analysis and genetic variation in human disorders

Genomic biomarkers for precision medicine

Investigating risk alleles and their implications

13/09/2025

Evaluation of pathogenic variant in WFS1 in a patient with Wolfram syndrome
Abstract
Objective
Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of the disorder. To date, more than 200 pathogenic and likely pathogenic variant have been identified. In the present investigation, we evaluated three families with WS and reported a mutation in the WFS1.

Objective Wolfram syndrome (WS) is a genetically disorder that affect on many organs, and neurodegenerative disorder. Although various clinical dysfunctions may have different onset times, they can collectively contribute to delays in the diagnosis of the disorder. To date, more than 200 pathogenic....

13/09/2025

Exploring the effects of alpha-pinene on apoptosis induction in human colon cancer cells via the PI3K/AKT signaling pathway: an in vitro study
Abstract
Background
Colorectal carcinoma ranks as the second most prevalent neoplasm in females and the third most prevalent in males.

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 vi...

13/09/2025

Unraveling relationship between the genetic polymorphism CYP2A13 and ni****ne metabolism of male smokers in Medan, Indonesia
Abstract
Background
Ni****ne metabolism significantly influences the levels of harmful ni****ne metabolites in smokers. CYP2A13, a key enzyme in ni****ne and xenobiotic metabolism, is implicated in to***co smoke-related lung cancer.

Background Ni****ne metabolism significantly influences the levels of harmful ni****ne metabolites in smokers. CYP2A13, a key enzyme in ni****ne and xenobiotic metabolism, is implicated in to***co smoke-related lung cancer. Aim This study investigated the association between CYP2A13 genetic polymorp...

13/09/2025

Association between CAPN-10 gene variant and diabetes mellitus in Nigeria: a review
Abstract
Background
Type 2 Diabetes Mellitus (T2DM) is a significant global health concern characterised by insulin resistance and chronic hyperglycemia. Genetic factors, particularly variations in the CAPN-10 gene, have been implicated in T2DM susceptibility across diverse populations.

Background Type 2 Diabetes Mellitus (T2DM) is a significant global health concern characterised by insulin resistance and chronic hyperglycemia. Genetic factors, particularly variations in the CAPN-10 gene, have been implicated in T2DM susceptibility across diverse populations. Aim and objective Thi...

13/09/2025

Preimplantation aneuploidy screening using embryonic cell-free DNA isolated from spent culture medium: a case report
Abstract
Background
Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). Therefore, this study presents a case report highlighting the application of embryonic cell-free DNA isolated from spent culture medium for preimplantation aneuploidy screening.

Background Chromosomal aberrations are frequent in human embryos and can be identified during IVF by performing preimplantation genetic testing for aneuploidies (PGT-A). Therefore, this study presents a case report highlighting the application of embryonic cell-free DNA isolated from spent culture m...

13/09/2025

Case report: identification of novel variant in SLC26A2 gene and preimplantation genetic testing for monogenic disorders in preventing diastrophic dysplasia
Abstract
Background
Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene.

Background Diastrophic dysplasia is a rare autosomal recessive disorder characterized by abnormalities in bone and cartilage development, caused by pathogenic variants in the SLC26A2 gene. Case presentation This article presents a clinical case of preimplantation genetic testing for monogenic disord...

13/09/2025

Determination of damaging SNP’s in SHANK3 gene with in silico methods
Abstract
Background
Asperger's syndrome, autism, and other neurodevelopmental diseases are all included under the general term autism spectrum disorder. The SHANK3 gene has a significant role in autism spectrum disorder; mutations in this gene are seen in roughly 1–2% of patients with both autism and intellectual disability. This genetic association provides insight concerning SHANK3's potential significance in the disorder's development. There is considerable evidence associating SHANK3 mutations to autism spectrum disorder; hence, it is worthwhile to investigate the underlying molecular genetic mechanisms of the disease.

Background Asperger's syndrome, autism, and other neurodevelopmental diseases are all included under the general term autism spectrum disorder. The SHANK3 gene has a significant role in autism spectrum disorder; mutations in this gene are seen in roughly 1–2% of patients with both autism and intel...

13/09/2025

Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia

Correction Open access Published: 03 February 2025 Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia Yeswanth Ranganathan1, Saayaa Nazar1, Ravi Shankar Krishnan1, Yuvaraj Dinakarkumar2,3, Vijayalakshmi Varadarajan2, Lenita S...

13/09/2025

Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran

Correction Open access Published: 03 February 2025 Correction: Awareness and attitudes of pregnant women concerning genetic disorders and pregnancy termination in northeastern Iran Nafseh Todarbary1, Abouzar Irandegani2, Mojtaba Meshkat3, Aida Gholoobi1,2 & …Tayebeh Hamzehloei ORCID: orcid.org/000...

13/09/2025

Non-coding RNAs and exosomal ncRNAs in colorectal cancer
Abstract
Colorectal cancer (CRC) is a complex disease with many genetic and epigenetic changes leading to dysregulation of cell signaling pathways. In recent years, increasing attention has been paid to the role of non-coding RNA (ncRNA) and exogenous ncRNA in the development and progression of CRC. ncRNAs play an essential role in the regulation of gene expression and cell function, and dysregulation of ncRNA expression is associated with the onset and progression of CRC. In this review, we discuss the molecular pathways involved in CRC and the emerging roles of ncRNAs and exogenous ncRNAs in the regulation of these pathways. We focus on microRNAs (miRNAs), long non-coding RNAs (lncRNAs), circular RNAs (circRNAs), and exogenous ncRNAs and their roles in regulating key signaling pathways such as the Wnt/β signaling pathway. β-catenin, PI3K/Akt, and TGF-β. We also discuss the potential of ncRNAs and exogenous ncRNAs as diagnostic and prognostic biomarkers for CRC, as well as their potential as therapeutic targets for CRC. Advances in ncRNA-based therapies present promising opportunities for the development of new therapies for CRC. A better understanding of the roles of ncRNAs and exogenous ncRNAs may lead to the development of new therapeutic strategies for this disease.

Colorectal cancer (CRC) is a complex disease with many genetic and epigenetic changes leading to dysregulation of cell signaling pathways. In recent years, increasing attention has been paid to the role of non-coding RNA (ncRNA) and exogenous ncRNA in the development and progression of CRC. ncRNAs p...

13/09/2025

Association of functional variants in miRNA genes with the risk of coronary heart disease
Abstract
Background
Cardiovascular diseases, especially coronary heart disease (CHD), are currently the leading cause of mortality and morbidity. Environmental and genetic factors contribute to the pathophysiology of CHD. In this study, we investigated the associations of miRNA genes MIR222, MIR423, MIR4274, and MIR3117 with the pathogenesis of CHD.

Background Cardiovascular diseases, especially coronary heart disease (CHD), are currently the leading cause of mortality and morbidity. Environmental and genetic factors contribute to the pathophysiology of CHD. In this study, we investigated the associations of miRNA genes MIR222, MIR423, MIR4274,...