by Luis A. Méndez-Rosado  , Luis A. Sotillo-Bent  , José Sotillo-Lindo  , Anduriña Barrios-Martínez  , Dulce Hechavarria-Estenoz  , Margarita Mayeta  , Jose Hernández-Gil  , Hector Pimentel-Benitez  , Maria Elena de la Torre  , Hibo Moreno  , Pedro Díaz-Véliz  , Alicia Vaglio  , Roberto Quadrelli  , Diana Sánchez-Peñarate  , Mabel Cerrillo-Hinojosa  , Pedro Carbonell-de la Torre  , Judith Pupo-Balboa  , Michel Soriano-Torres  , Marilyn del Sol  , Arlay Castelvi  , Enny Morales  , Damarys García  , Rocío Serrano-Hidalgo  , Catalina Obando  , Liz Pardo  , Laritza del Toro  , Miladys Martinez  , Conrado Uria-Gómez  , Maria G Arteaga Ontiveros  , Mayte Castro  , Odalys Rabelo  , Sahily Miñoso  , Deysi Licourt  , Irenia Blanco  , Roberto Lardoeyt-Ferrer  , Nereida Gonzalez  and Olga Quiñones-Masa

Received: 24 November 2024;  Published: 10 June 2025;  doi: 10.21926/obm.genet.2502296

Generally, in reciprocal translocations there are no gains or losses of genetic material. From the clinical point of view, its primary importance lies in the fact that it can generate errors due to incorrect chromosome segregation during meiosis in carriers. On the other hand, other mutations are less frequent in the genome, specifically in the DNA breakpoints implied in these translocations. In Latin America there are no large-scale reports about this topic. To contribute to the study of reciprocal translocations [...]

by Faten Dhawi  and Shefin Basheera

Received: 12 March 2025;  Published: 25 May 2025;  doi: 10.21926/obm.genet.2502295

Jatropha curcas L., a medicinal shrub renowned for its diverse phytochemicals, has been traditionally used to treat various ailments, including ulcers, neoplasms, and dermatological conditions. Despite its pharmacological promise, its potential against Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) remains unexplored. This study investigates the antiviral efficacy of J. curcas phytochemicals targeting the SARS-CoV-2 main protease (Mpro), a critical enzyme for viral replication, using advanced computat [...]

by Mohammad-Reza Ghasemi  , Maryam Mirahmadi  , Hadi Bayat  , Mohammad Miryounesi  , Reza Mirfakhraie  , Shadab Salehpour  , Raheleh Tangestani  , Faezeh Sherafat  , Hasan Roudgari  and Milad Gholami

Received: 16 January 2025;  Published: 21 May 2025;  doi: 10.21926/obm.genet.2502294

Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intellectual disability, and dermatoglyphic abnormalities. We analyzed two unrelated Iranian patients suspected of having KS using whole-exome sequencing. An in silico analysis was performed to evaluate the potential effects of the discovered variants on the structure and function of t [...]

by Monday Uchenna Obaji  , Angus Nnamdi Oli  and Malachy C Ugwu

Received: 12 December 2024;  Published: 23 April 2025;  doi: 10.21926/obm.genet.2502293

Cytokines are pivotal regulators of immune responses. They are critical in mediating inflammation, recruiting immune cells, and driving pathogen clearance. Among these, interleukin-6 (IL-6), interleukin-8 (IL-8), and tumor necrosis factor-alpha (TNF-α) stand out as key players in pediatric immunity, as they exhibit unique expression patterns that reflect the dynamic nature of the developing immune system. This review explores the dual roles of these cytokines in orchestrating immune defense and their potential as d [...]

by Ayub Nor Hanin  , Mat Yunus Abdul Masani  , Ong-Abdullah Janna  , Omar Abdul Rasid  and Ghulam Kadir Ahmad Parveez

Received: 18 December 2024;  Published: 15 April 2025;  doi: 10.21926/obm.genet.2502292

Oil palm is the most productive vegetable oil crop compared to other oil-bearing crops because it produces the highest oil yield per hectare. Palm oil is very versatile since it is used for producing food and beverages, personal care and cosmetics, cleaning products, biofuel, and bioenergy. To cater to the increasing demand in the global palm oil market, much research has been done to improve the oil's yield and modify its quality in addition to the oil palm height through breeding. Due to its long breeding cyc [...]

by Mohammad-Reza Ghasemi  , Maryam Mirahmadi  , Hadi Bayat  , Morteza Sheikhi Nooshabadi  , Sanaz Jamshidi  , Shadab Salehpour  , Reza Mirfakhraie  , Fatemeh Fazeli  , Mohammad Miryounesi  and Milad Gholami

Received: 22 November 2024;  Published: 14 April 2025;  doi: 10.21926/obm.genet.2502291

Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes the alpha chain of type XVIII collagen. This type of collagen functions as a proteoglycan, predominantly located in the basement membrane of human tissues. This study examined an Iranian female presenting with symptoms of horizontal nystagmus, strabismus, and suspected vision loss, with a [...]

by Soumaya Kachti  , Manel Chalbi  , Soumaya Boussaid  , Faten Awled Brahim  and Mohamed Ali Chemli

Received: 19 March 2024;  Published: 03 April 2025;  doi: 10.21926/obm.genet.2502290

X-linked hypophosphatemic rickets (XLHR) is a hereditary metabolic disease caused by the loss of phosphate through the renal tubules into the urine and an associated decrease in serum calcium and potassium phosphate, resulting in bone and dental abnormalities. We report this case, aiming to describe, through an 8-year follow-up case report, the clinical approach adopted in managing dental features in both primary and permanent dentition in a child diagnosed with XLHR. The oral manifestations were mainly premature e [...]

by Mahintaj Dara  , Negin Shafieipour  , Mahsa Saffar  , Mehdi Dianatpour  , Seyed-Mohammad-Bagher Tabei  and Seyed-Alireza Dastgheib

Received: 18 November 2024;  Published: 01 April 2025;  doi: 10.21926/obm.genet.2502289

Since the initial discovery of the CRISPR system in bacteria as an adaptive immune system, a deeper understanding of CRISPR structure and function has made it possible to perform gene editing, gene therapy, and revolutionize the diagnostic field. One of the exciting applications of the CRISPR-Cas system is used as a tool for the rapid diagnosis of infectious diseases and their treatment and the prevention of infection spread among people. The CRISPR-based diagnostic system could be the next-generation standard beca [...]

by Lingzi Zhong  , Madison A. Krall  , Brianne M. Daly  , Wendy Kohlmann  and Kimberly A. Kaphingst

Received: 28 May 2024;  Published: 25 March 2025;  doi: 10.21926/obm.genet.2501288

The goal of this qualitative study was to explore pregnancy capable individuals’ perceptions of having cancer predisposition testing (CPT) and/or expanded carrier screening (ECS) during routine gynecologic care and how these perceptions differ across individuals. A thematic analysis was conducted based on qualitative data from 26 semi-structured interviews with women between 20 and 35 years of age at a single academic health center in the Mountain West of United States. The analysis indicated that participants’ int [...]

by Majid Monajjemi  , Fatemeh Mollaamin  and Ahmad R. Alsayed

Received: 04 July 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501287

Hepatitis C virus (HCV) is a primary global health concern, and though therapeutic options have improved, no very effective vaccine is available despite decades of research. The health and vitality of the organism are related to the result of homeostatic regulation of the internal environment. In contrast, it follows that disruption of homeostatic mechanisms leads to disease, particularly in liver cancer. Since HCV can rapidly mutate to evade the immune response, an effective HCV vaccine must rely on the identifica [...]