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 cycle, [...]

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 [...]

by Matilda Frimpong  , Michael Kwabena Osei  , Kingsley Osei  , Ruth Naa Ashiokai Prempeh  , Joseph Gyau  , Isaac Newton Boakye-Mensah  , Bismark Abugri  and Maxwell Darko Asante

Received: 22 August 2024;  Published: 28 February 2025;  doi: 10.21926/obm.genet.2501286

Plant-parasitic nematodes threaten tomato cultivation in Ghana, particularly the root-knot nematodes, causing substantial economic yield losses. However, these yield losses can be prevented through resistant varieties. This study aims to determine the type of gene action, heritability, heterosis and inbreeding depression for root-knot nematode resistance in tomato. A cross between CSIR/CRI-P005 (P1), an adapted variety with good yield but susceptible to root-knot nematode and VFNT (P2), which is resistant to root-k [...]

by Joni Indah Sari  , Nydia Rena Benita Sihombing  , Nani Maharani  , Tri Indah Tri Indah  and Agustini Utari

Received: 30 December 2024;  Published: 14 February 2025;  doi: 10.21926/obm.genet.2501285

DiGeorge syndrome (DGS) or 22q11.2 deletion syndrome (22q11.2DS) is the most common genetic microdeletion in humans, with an incidence rate of 1:3000 to 6000 live births. Early detection and diagnosis of DiGeorge syndrome are challenging to clinicians due to its phenotype variability. We report two cases of DiGeorge syndrome, each demonstrating a different combination of clinical phenotypes. Two girls (2 years-3 months old and 2 years-2 months old) were diagnosed with 22q11.2DS following chromosomal microarray anal [...]