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 [...]

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

Received: 29 November 2024;  Published: 05 February 2025;  doi: 10.21926/obm.genet.2501284

Deletion of chromosome 1p36 encompassed various genes; however, the role of the CAMTA1 gene in the 1p36 region is less investigated. We report a child with developmental delay, a history of congenital heart abnormality, self-injurious behavior, nystagmus, and facial dysmorphism. Chromosomal microarray revealed a 257.2 kb deletion of chromosome 1p36.31, with CAMTA1 as the only involved gene. We explore overlapping clinical features of both chromosome 1p36 deletion and CAMTA1 intragenic deletion, including intellectu [...]

by Smaili Fatimazahra  , Zerrouki Khawla  , Aouni Fatima Ezzahra  , Ghanam Ayad  , Rkain Maria  , Babakhouya Abddeladim  and Tajir Mariam

Received: 04 October 2024;  Published: 04 February 2025;  doi: 10.21926/obm.genet.2501283

Dystrophinopathies are genetic muscular disorders with recessive inheritance linked to the X chromosome due to mutations in the dystrophin gene, the DMD gene located in Xp21. The best-known forms are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Our study aims to determine the molecular profile and genotype/phenotype correlations of dystrophinopathies in the eastern region of Morocco. We report patients referred for 4 years (2020-2023) to the Medical Genetics Laboratory of the Mohammed VI U [...]

by Hicham Bouchahta  , Zhour EL Amrani  , Siham Chafai Elalaoui  , Fatima Ouboukss  , Aziza Sbiti  , Laila Sbabou  , Thomas Liehr  , Abdelaziz Sefiani  and Abdelhafid Natiq

Received: 14 October 2024;  Published: 27 January 2025;  doi: 10.21926/obm.genet.2501282

Cat-eye syndrome (CES) is a rare genetic disease first reported in 1965. The estimated prevalence of CES is 1:50,000 to 1:150,000, and it is typically associated with an inverted duplicated small supernumerary marker chromosome (sSMC) derived from chromosome 22. The specific chromosomal band involved in CES causing partial tetrasomy is 22q11.21, where chromosomal rearrangements occur due to the presence of low-copy repeats (LCR22). The phenotype of CES is extremely diverse, ranging from normal to multiple abnormali [...]

by Hanny Tanasal  , Iline Michaela  and Retno Danarti

Received: 28 October 2024;  Published: 08 January 2025;  doi: 10.21926/obm.genet.2501281

Harlequin ichthyosis (HI) is among the most severe hereditary skin conditions of autosomal recessive congenital ichthyosis (ARCI) in newborns, associated with a mutation of the ABCA12 gene. Patients have a typical clinical appearance at birth. A thick layer of armor-like scales covers the entire body. Affected newborns have abnormal facial features, such as ectropion, eclabium, and ears and nose flattening. Although HI was formerly assumed to be fatal, more intensive neonatal care and early retinoid therapy may imp [...]