by Oluwafemi G. Oluwole  , Kili James  and Ambroise Wonkam

Received: 16 January 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502299

Human mouse orthologous hearing impairment genes were investigated in African patients for causal variants. A homozygous mutation in exon 13 of the microcephalin1 (MCPH1) gene, which encodes the BRCA1-carboxyl terminal 2 domain (BRCT2), was reported in non-syndromic hearing impairment (NSHI). The present study aims to investigate further the emerging roles of MCPH1 in the genetics of NSHI in African patients in the new and larger cohorts. This study screened multiplex families and isolated cases, including 90 patie [...]

by Thomas Liehr  and Peining Li

Received: 20 April 2025;  Published: 26 June 2025;  doi: 10.21926/obm.genet.2502298

Human ring chromosomes (RCs) constitute one of the rarest described inborn chromosomal rearrangements. At first, they seem to be just another subgroup of structural chromosomal aberrations like translocations, inversions, or insertions. However, RCs are more complex, as they almost always occur in conjunction with a mosaic karyotype constitution, resulting in mosaic monosomy of the affected chromosome. Most likely due to the latter effect, a genotype-phenotype correlation is still not available. To proceed with sol [...]

by Hela Mhiri  , Manel Chalbi  , Nesrine Dridi  , Faten Ouled Brahim  and Med Ali Chemli

Received: 06 April 2025;  Published: 24 June 2025;  doi: 10.21926/obm.genet.2502297

We report the case of a 3-year-old girl from a consanguineous marriage, initially diagnosed with vitamin D deficiency–associated periodontitis following early tooth mobility. Despite supplementation, her condition worsened with the onset of palmoplantar hyperkeratosis. Further investigations revealed the diagnosis of Papillon-Lefèvre Syndrome (PLS), a rare genetic disorder causing severe periodontitis and palmoplantar keratosis. The patient was managed with vitamin D supplementation, dental extractions, and a remov [...]

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 [...]