02 - LIDSEN Publishing Inc.丨The Open Access Publisher

Volume 9,Issue 2

Open Access Original Research

The Identification and Classification of Novel Genetic Variants in the MCPH1 Gene Suggest Association with Non-Syndromic Hearing Impairment

Oluwafemi G. Oluwole ,

Kili James and

Ambroise Wonkam

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

Abstract

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 scre [...]

Open Access Original Research

A New Database on Constitutional Human Ring Chromosomes

Thomas Liehr and

Peining Li

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

Abstract

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 aff [...]

Open Access Case Report

Papillon-Lefèvre Syndrome and Vitamin D Deficiency: An Intriguing Clinical Observation

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

Abstract

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 extr [...]

Open Access Original Research

Reciprocal Translocations in Prenatal Diagnosis: Latin America Data

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

Abstract

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.

Open Access Original Research

In Silico Evaluation of Anti-SARS-CoV-2 Bioactive Compounds from Jatropha curcas

Faten Dhawi and

Shefin Basheera

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

Abstract

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 targeti [...]

Open Access Case Report

Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the KMT2D Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorder

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

Abstract

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 va [...]

Open Access Review

The Roles of IL-6, IL-8, and TNF-α in Pediatric Immune Defense and Infection Severity

Monday Uchenna Obaji ,

Angus Nnamdi Oli and

Malachy C Ugwu

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

Abstract

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 [...]

Open Access Review

Agrobacterium-Mediated Genome Modification for Improvement of Oil Palm Planting Materials

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

Abstract

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 l [...]

Open Access Case Report

Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review

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

Abstract

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, strab [...]

Open Access Case Report

Oral Features in Children with X-Linked Hypophosphatemic Rickets: An 8-Year Follow-Up Case Report

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

Abstract

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 wer [...]

Open Access Review

Diagnosis of Infectious Diseases by CRISPR/Cas System

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

Abstract

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-gene [...]

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