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 Khevin Jade Gumaru  , Harley Rodriguez  and Ourlad Alzeus G. Tantengco

Received: 12 January 2025;  Published: 15 August 2025;  doi: 10.21926/obm.genet.2503307

Breast cancer is a significant health problem. Epigenetic alterations that influence gene expression were implicated in breast cancer pathogenesis. Bibliometric analysis can be done to evaluate the existing literature and identify gaps and emerging trends. This bibliometric analysis aims to provide an overview of the current landscape of global breast cancer epigenetics research, identify existing networks of countries and authors’ keywords, and assess the association of a country’s socioeconomic indica [...]

by Lunawati Lo Bennett

Received: 25 August 2025;  Published: 15 October 2025;  doi: 10.21926/obm.genet.2504313

Non-small cell lung cancer (NSCLC), accounting for approximately 85% of lung cancer cases, remains a leading cause of cancer-related mortality. Genetic alteration such as EGFR mutations, tobacco exposure, and resistance to apoptosis, slows its progression and limits therapeutic success. Although targeted therapies and immunotherapy have improved outcomes for select patients, resistance remains a major challenge, highlighting the need for more effective treatments. This study investigated the potential synergistic i [...]

by Mohammadreza Mohammadabadi  , Amin Khezri  , Olena Babenko  , Oleksandr Oleksandrovich Borshch  , Oleksandr Kalashnyk  , Iryna Starostenko  , Sergii Тkachenko  , Nataliia Klopenko  , Iryna Tytarenko  , Ivan Bezpalyi  and Aliakbar Khabiri

Received: 30 July 2025;  Published: 30 October 2025;  doi: 10.21926/obm.genet.2504315

Interleukin-8 (IL-8), a pro-inflammatory cytokine, plays a critical role in immune modulation in poultry and has potential applications in veterinary and human medicine. This study investigated the effects of dietary supplementation with mealworm (Tenebrio molitor), probiotics, or their combination on IL-8 gene expression in the livers and spleens of broiler chickens. A total of 160 one-day-old broiler chickens (Ross 308 strain) were assigned to four treatments (basal diet, basal diet + 0.2 g/kg probiotic, basal di [...]

by Nadezhda G. Duplii  , Kirill V. Azarin  , Alexander V. Usatov  , Andrey A. Plotnikov  , Ritu Rani  and Vishnu D. Rajput

Received: 20 February 2025;  Published: 22 July 2025;  doi: 10.21926/obm.genet.2503305

The present work aimed to study the effects of 10-(6'-plastoquinonyl) decyltriphenylphosphonium (SkQ1) on rice (Oryza sativa) plants germinating under flooding conditions. The influence of different concentrations of SkQ1 (mitochondria-targeted antioxidant) on resistance to complete flooding was assessed on rice seedlings of the Kuboyar variety. The total level of reactive oxygen species (ROS), H2O2-induced chemiluminescence, and gene expression of antioxidant enzymes (OsSODA (superoxide dismutase A), OsSODB (s [...]

by Lyubov Starodub  , Nataliia Mokhnachova  and Ostap Zhukorskyi

Received: 16 April 2025;  Published: 07 July 2025;  doi: 10.21926/obm.genet.2503302

Characterization of the non-coding part of the transcriptome is a supplement to the annotation of the genome of living organisms. According to ISSR-fingerprinting data, information is obtained about ancient gene pools, modern gene pools, genetic variability and conservation of breeds and species of farm animals. The aim of the study is to study the molecular genetic component and phylogenetic relationships in the aboriginal Hutsul horse breed and fossil remains of ancient horses using ISSR-PCR markers. The polymorp [...]

by Mahintaj Dara  , Negar Azarpira  , Nasrin Motazedian  , Mahdokht Hossein-Aghdaie  , Seyed-Mohsen Dehghani  , Bita Geramizadeh  and Elaheh Esfandiari

Received: 24 May 2025;  Published: 26 November 2025;  doi: 10.21926/obm.genet.2504319

Biliary atresia (BA), a severe pediatric liver disease of unknown etiology, causes neonatal jaundice, progressive cholestasis, and life-threatening liver fibrosis. Emerging evidence suggests microRNAs (miRNAs) – small non-coding RNAs that regulate gene expression by binding target mRNAs may play a role in BA pathogenesis. Circulating miRNAs have shown diagnostic potential for various diseases, prompting our investigation of miR-21 and miR-19 as potential biomarkers in BA. We conducted a case-control study comparing [...]

by Emad Fadhal

Received: 18 June 2025;  Published: 13 October 2025;  doi: 10.21926/obm.genet.2504312

A molecular-level understanding of cancer is essential for the development of effective therapies. Constructing protein-protein interaction (PPI) networks offers a valuable approach to identifying dysregulated driver genes and potential therapeutic targets. In this study, we modeled cancer PPI networks as metric spaces and applied mathematical and computational algorithms to analyze their structural and functional properties. Our findings reveal that these networks share a conserved architecture across different ca [...]

by Pierre-Yves Maillard  , Sima Tokajian  , Marie Vilaire-Meunier  , Charbel Al Khoury  , Cybel Mehawej  , Eliane Chouery  , Marie-Anne Caillaud  , Louise Maillebouis  , Ines Ben Smida  , Sophie Durand  , Aimé Ravel  , Cecile Cieuta-Walti  , Marie-Noëlle Ungeheuer  , Clotilde Mircher  and André Mégarbané

Received: 05 October 2024;  Published: 03 July 2025;  doi: 10.21926/obm.genet.2503300

To investigate the potential impact of the additional chromosome 21 on the gut microbiome in patients with Down syndrome (DS), two monozygotic (MZ) and two dizygotic (DZ) twin pairs discordant for DS were studied. Whole-genome shotgun sequencing was conducted to analyze the taxonomic and functional profiles of the gut microbial community in the twins and assess whether the gut microbiome composition influences the development of psychological pathologies. Sequencing generated a total of 2,338,132 reads, combined ac [...]

by Lucia Urbanová  , Silvia Farkasova  , Ivana Speváková  , Matúš Kyseľ  , Veronika Šimora  , Miroslava Kacaniova  and Jana Žiarovská

Received: 21 May 2024;  Published: 26 September 2024;  doi: 10.21926/obm.genet.2403263

Medicinal plants have been a part of human life from a very early age. In the field of plant genetics, they are still widely investigated for their genomic variability. This study used two DNA marker techniques to obtain polymorphic profiles in selected species from Lamiaceae. Both are based on the variability of plant genes that code for allergens - BBAP (Bet v 1-Based Amplicon Polymorphism) and PBAP (Profilin-Based Amplicon Polymorphism). Variability of Bet v 1 homologues within individual genomes showed similari [...]

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 Bolanle Adenike Akinsanola  , Matthew Iyobhebhe  , Tobiloba Christianah Maduakolam-Aniobi  , Tomilola Debby Olaolu  , Damilare Emmanuel Rotimi  and Oluwafemi Adeleke Ojo

Received: 17 February 2024;  Published: 30 July 2024;  doi: 10.21926/obm.genet.2403254

Diabetes Mellitus (DM) is a degenerative disease that modifies the body’s glucose metabolism. Although glucose is a vital energy source for body cells, individuals with diabetes can either not use insulin efficiently or do not create enough of this hormone, which controls blood sugar. This review aimed to explore the multi-target treatment for diabetes. This study investigates explicitly recent reports published in peer-reviewed journals indexed in various databases, including Web of Science, Scopus, PubMed, Google [...]

by Lyubov Starodub  , Nataliia Mokhnachova  and Ostap Zhukorskyi

Received: 18 June 2024;  Published: 31 October 2024;  doi: 10.21926/obm.genet.2404269

The preservation of the fund of local breeds of agricultural animals, which are breeding materials for the creation of new ones and the improvement of existing ones, meets the FAO requirements, which are the protection of biological diversity. The study of the genetic structure of cows of the local Lebedyn breed, which was bred in Ukraine, using cytogenetic and molecular genetic methods, is aimed at establishing information about the structure of the gene pool of these animals and the uniqueness of their genotype. [...]

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 Ivanna Shymanska  , Sofiia Levandivska  , Marharyta Marchuk  , Anastasiya Honchar  , Volodymyr Kravets  and Halyna Makukh

Received: 30 November 2024;  Published: 04 September 2025;  doi: 10.21926/obm.genet.2503309

Biallelic pathogenic variants in C1QBP are an infrequent, yet increasingly recognised, cause of progressive external ophthalmoplegia (PEO). Although most published cases include cardiomyopathy, isolated late‑onset PEO without cardiac disease remains exceptional. To characterise, for the first time, a Moldavian‑Ukrainian pedigree in which homozygous c.612C>G (p.Phe204Leu) in C1QBP causes autosomal‑recessive PEO in the absence of cardiomyopathy, thereby expanding the phenotypic spectrum of C1QBP‑related disease. W [...]

by Walter Calderón-Gerstein  , Gabriela Torres-Samaniego  , Kevin Pazos-Sovero  and Mirella Calderón-Anyosa

Received: 07 December 2022;  Published: 20 November 2024;  doi: 10.21926/obm.genet.2404271

This study aims to validate two predictive mortality scores for patients with COVID-19 to support clinical decision-making in those who require hospitalization. The tomographic patterns found can be added to the original scores to increase their predictive power. Retrospective, analytical, observational, and cross-sectional studies were carried out in two phases. 489 medical records of patients with COVID-19 hospitalized at “Daniel A. Carrión” Hospital in Huancayo (located at 3,250 meters above sea level) were revi [...]

by Dwinanda Almira Rizkiani  , Erliana Tantri Harsono  , Raden Roro Rini Andayani  , Hanggoro Tri Rinonce  , Niken Trisnowati  and Retno Danarti

Received: 05 June 2025;  Published: 15 September 2025;  doi: 10.21926/obm.genet.2503311

Netherton syndrome is a rare autosomal recessive disorder caused by mutations in the SPINK5 gene, leading to LEKTI protein dysfunction, impaired skin barrier function, and immune dysregulation. It manifests as a triad of ichthyosiform erythroderma, trichorrhexis invaginata (bamboo hair), and atopic diathesis, often mimicking other inflammatory dermatoses. We report a 9-month-old Javanese Indonesian male infant presenting with extensive erythematous, scaly skin lesions and severe pruritus. Laboratory tests revealed [...]

by OBM Genetics Editorial Office

Received: 03 January 2025;  Published: 03 January 2025;  doi: 10.21926/obm.genet.2501277

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2024. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web of Sci [...]

by Irina G. Udina  , Marina A. Gubina  and Alesya S. Gracheva

Received: 04 June 2025;  Published: 12 January 2026;  doi: 10.21926/obm.genet.2601324

The purpose of the study was to consider the distribution of Y-chromosome DNA markers in samples from the populations of the three largest megalopolises (Moscow, Saint Petersburg, and Novosibirsk) in the Russian Federation, in the context of developing genetic databases. The study aimed to compare the frequency profiles of 18 Y-chromosome STRs (Short tandem repeats) and the level of genetic differentiation. Based on FST estimates for the distribution of these 18 Y-chromosome STRs, the senior generations of Moscow a [...]

by Marcella Anggatama  , Hanggoro Tri Rinonce  , Dwinanda Almira Rizkiani  , Eddy Supriyadi  , Raden Roro Rini Andayani  , Yohanes Widodo Wirohadidjojo  and Retno Danarti

Received: 26 October 2025;  Published: 11 December 2025;  doi: 10.21926/obm.genet.2504320

Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by early-onset poikiloderma and multisystem abnormalities. Diagnosis is often confirmed through genetic testing, but in many resource-limited settings, molecular studies are unavailable, necessitating reliance on clinical and histopathological evaluation. We report a 1-year-old boy referred for assessment of progressive pigmented skin lesions. The patient was referred by a pediatrician with febrile neutropenia, bicytopenia suspicio [...]

by Manal Hadi Ghaffoori Kanaan  , Beom-Jin Lee  , Sura Saad Abdullah  , Chulhun Park  , Abdolmajid Ghasemian  and Steward Mudenda

Received: 10 October 2025;  Published: 14 January 2026;  doi: 10.21926/obm.genet.2601325

Stem cell-derived exosomes (SDEs) have emerged as revolutionary mediators in cancer immunotherapy, offering unprecedented potential to reprogram the immunosuppressive tumor immune microenvironment (TIME). These nano-sized extracellular vesicles, laden with non-coding RNAs (ncRNAs), serve as natural biocompatible carriers, capable of orchestrating immune cell dynamics, stromal remodeling, and tumor cell fate. Unlike their tumor-derived counterparts, which often propagate oncogenic signals, SDEs uniquely harbor immun [...]

by Recai Aci  , Adem Keskin  , Özlem Sezer  , Taner Karakaya  , Samet Semiz  and Melek Bilgin

Received: 01 October 2025;  Published: 24 November 2025;  doi: 10.21926/obm.genet.2504318

This study investigated three novel complete blood count–derived inflammatory biomarkers Systemic Immune-Inflammation Index (SII), Systemic Inflammation Response Index (SIRI), and Pan-Immune-Inflammation Value (PIV) and their relationship with clinical features of Behçet’s Disease (BD). Established markers, including neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and monocyte-to-lymphocyte ratio (MLR), were also analyzed. Seventy HLA-B51–positive BD patients and 114 HLA-B51–negative healt [...]

by Konstantinos Agiannitopoulos  and Elisavet Kouvidi

Received: 02 May 2025;  Published: 25 December 2025;  doi: 10.21926/obm.genet.2504321

Leukemia is a heterogeneous group of hematologic malignancies characterized by the dysfunctional proliferation of white blood cells in the bone marrow. Genetic alterations are important risk factors for the development and progression of leukemia, and their detection is crucial. Although many genetic techniques, including karyotyping, fluorescence in situ hybridization (FISH), and polymerase chain reaction (PCR), have provided valuable information, they all have the limitation of incomplete genomic coverage. The ev [...]

by Rustam Nailevich Mustafin

Received: 29 September 2025;  Published: 08 January 2026;  doi: 10.21926/obm.genet.2601323

Tuberous sclerosis (TS) is one of the most common hereditary tumor syndromes, occurring with an average incidence of 1 in 9,000 newborns worldwide. The disease manifests itself through the development of tumors of the brain, kidneys, heart, lungs, and skin, along with characteristic depigmented spots. Tuberous sclerosis is caused by germline variants in the TSC1 (encoding hamartin) and TSC2 (encoding tuberin) genes. The hamartin-tuberin protein complex, together with the TBC1D7 molecule, inhibits the serine/threoni [...]

by Rafaele Tavares Silvestre  , Mariana Chantre-Justino  , Mariana Alexandre Bragante  , Paula Lacorte de Carvalho  , Lucas Delmonico  , Gilda Alves  , Maria Helena Ornellas  and Dirce Bonfim de Lima

Received: 31 May 2025;  Published: 04 February 2026;  doi: 10.21926/obm.genet.2601326

Advances in antiretroviral therapy (ART) have normalized the life expectancy of people living with HIV (PLWH) but have been linked to a premature presentation of age-related comorbidities, including cancer. Telomere length (TL) is a marker of cellular aging and was investigated in blood leukocytes from 78 PLWH on ART, compared with 163 HIV-uninfected controls. The PLWH group was stratified into three subgroups: HIV-only (n = 57), HIV with AIDS-defining cancer (ADC, n = 9), and HIV with NADC (n = 12). Quantitative p [...]

by Ahmad M. Khalil

Received: 27 November 2025;  Published: 17 March 2026;  doi: 10.21926/obm.genet.2601329

Diabetes mellitus (DM) is a metabolic disorder resulting from aberrations in insulin secretion or action. Diabetes mellitus still presents as a global health challenge. Conventional diabetes treatment may result in unwanted side effects and/or poor compliance. More personalized and curative approaches to the treatment of DM are required. The review explores recent developments in the fields of genetic and molecular underpinnings of DM, focusing on the revolutionary potential of cell- and Clustered Regularly Intersp [...]

by OBM Genetics Editorial Office

Received: 04 January 2026;  Published: 04 January 2026;  doi: 10.21926/obm.genet.2601322

The editors of OBM Genetics would like to express their sincere gratitude to the following reviewers for assessing manuscripts in 2025. We greatly appreciate the contribution of expert reviewers, which is crucial to the journal's editorial process. We aim to recognize reviewer contributions through several mechanisms, of which the annual publication of reviewer names is one. Reviewers can download a certificate of recognition directly from our submission system. Additionally, reviewers can sign up to the Web of Sci [...]

by Thomas Liehr

Received: 21 January 2026;  Published: 26 March 2026;  doi: 10.21926/obm.genet.2601332

Non-invasive prenatal testing (NIPT) is now standard in prenatal care in many countries, even though it was introduced only about 15 years ago. Due to its rapid adoption into decades-old prenatal care plans, gynecologists, obstetricians, and the general public still struggle to understand the possibilities, benefits, and limitations of NIPT. The biggest challenge facing NIPT is that comprehensive training for healthcare professionals and independent, unbiased information for pregnant women and their families about [...]

by Muhammad Muzammal  , Maria Faraz  , Zia Ur Rehman  and Muzammil Ahmad Khan

Received: 03 December 2025;  Published: 09 March 2026;  doi: 10.21926/obm.genet.2601327

Male infertility is a growing concern worldwide, with almost half of infertility cases being male, and the trend is rising in China as a result of multifaceted genetics-environment interaction. Important breakthroughs have been made in identifying mutations in annotated protein-coding genes associated with male infertility. However, a significant part of the human genome, namely non-coding DNA, has not yet been explored. Recent breakthroughs in the realm of high-throughput genomic technologies have unveiled the ind [...]

by Noora A. Hadi  , Rehab S. Ramadhan  , Khalid Suhail A. AlAzzawi  , Rebah N. Algafari  , Sura S. Talib  and Rawaa A. Khalaf

Received: 06 December 2025;  Published: 15 March 2026;  doi: 10.21926/obm.genet.2601328

Diabetes mellitus (DM) is widely spread among populations. About 3 of 10 people show the symptoms of this disease. Many factors may cause this illness in both types (type 1 and type 2 DM), mainly attributed to insufficient insulin production in type 1 DM or developing insulin resistance in type 2 DM. Genes that control specific biochemical pathways involving glucose metabolism can interfere with the manifestation of this disease when they undergo genetic changes like KRAS. Investigating the role of KRAS in DM. Abou [...]

by Alžbeta Jauschová  , Jana Žiarovská  and Lenka Kučerová

Received: 26 December 2025;  Published: 23 March 2026;  doi: 10.21926/obm.genet.2601331

Genetically conditioned variation in pollen has been demonstrated to have a substantial influence on reproductive mechanisms and population dynamics. The present study evaluated the genetic variability of 28 pollen samples of Corylus avellana L. using iPBS (Inter Primer Binding Sites Polymorphism) markers 1882 and 2152. The collection of biological material was undertaken at various locations across five European countries, with the objective of capturing a broad spectrum of environmental conditions. The genetic re [...]

by Doaa Mokhtar  , Amina Abdel-Hamid  , Ahmed Mohamed Mostafa  , Ahmed M.S. Elfanah  , Mohamed A Badawi  , Abdullah A. Saber  , Hoda S. Barakat  and Sara Aly

Received: 23 November 2025;  Published: 20 March 2026;  doi: 10.21926/obm.genet.2601330

Salinity poses a danger to food security; hence, it is necessary to create crop types that can withstand salt to meet the growing demand for food. The goal of the current study was to examine the morphological and biochemical responses of wheat (Triticum aestivum L.) genotypes under salt stress. Salt tolerance in ten wheat cultivars and five selected F1 hybrids was assessed at the germination and seedling stage. Genotypes were assessed for seven traits under control (0 mM NaCl) and salinity stress (150, 200, and 25 [...]

by Thu-Thao Thi Huynh  , Thi Nga Nguyen  , Anh-Duy Hoang Nguyen  and Minh Trong Quang

Received: 15 January 2026;  Published: 07 April 2026;  doi: 10.21926/obm.genet.2602334

Rauvolfia tetraphylla L. (1753) is an important medicinal species of Apocynaceae, widely used for its rich indole alkaloids and related bioactive compounds. We report the first complete chloroplast genome of R. tetraphylla. The genome exhibits a typical circular quadripartite structure of 155,667 bp, with an overall GC content of 37.8%. The genome comprises a large single-copy (LSC) region of 86,332 bp, a small single-copy (SSC) region of 17,853 bp, and a pair of inverted repeat (IR) regions of 25,741 bp each. A to [...]

by Lyubov Starodub  , Nataliia Mokhnachova  and Ostap Zhukorskyi

Received: 01 December 2025;  Published: 01 April 2026;  doi: 10.21926/obm.genet.2602333

The article reveals the variability of the genome of cattle of the local small-numbered domestic Brown Carpathian breed using cytogenetic and molecular genetic polylocus markers, and justifies the need to integrate local breeds into the modern system of agricultural production in accordance with FAO requirements. The work aimed to study the genetic uniqueness of cows of the brown Carpathian breed using cytogenetic and molecular genetic markers. The karyotype of the animals corresponded to the species norm and was 2 [...]

by Taslim Uddin  , Fatema Tuz Zohora  , Tajmin Khanam  , Moumita Akter  , Lubaba Ibnul Himika  , Anika Tabassum Aziz  , Fariha Tabassum  , Syeda Marjia Kajol Tushy  , Salaha Aktar  , Maisha Maliha Misha  , Shaikh Nuzhat Nawshin Nimu  , Sadia Tasnim  , Shammi Akter Joya  , Israt Tasnim Mahisa  and Shahrin Akter Pinky

Received: 09 January 2026;  Published: 15 April 2026;  doi: 10.21926/obm.genet.2602337

Changes in the environment driven by climate change are becoming significant stressors that impact brain function, but the connections between these changes and neural plasticity remain unclear. This review aims to offer a comprehensive synthesis of the impact of climate-related stressors on neural plasticity via genetic and epigenetic mechanisms. A structured literature search (2000-2025) was conducted using PubMed, Scopus, and Web of Science, integrating evidence from in vitro, animal, and human studies. Findings [...]

by Anastasiia Kornutii  , Oleksandr Kornutii  , Ivanna Shymanska  , Maiia Bondarenko  and Natalia Prokopchuk

Received: 12 September 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602335

Craniosynostosis is a disorder characterized by premature closure of cranial sutures, resulting in restricted skull growth perpendicular to the affected suture and compensatory growth in other directions. Over 180 syndromes have been classified under craniosynostosis, of which eight are associated with mutations in the fibroblast growth factor receptor 2 (FGFR2) gene: isolated coronal synostosis, Pfeiffer syndrome, Crouzon syndrome, Apert syndrome, Beare–Stevens syndrome, Jackson–Weiss syndrome, Crouzon syndrome wi [...]

by Elham Alimoradi  , Parham Nejati  , Fatemeh Molavi  , Setareh Isaee  , Soudeh Ghafouri-Fard  and Reza Alibakhshi

Received: 25 November 2025;  Published: 13 April 2026;  doi: 10.21926/obm.genet.2602336

Sensorineural hearing loss (SNHL) describes a diverse group of clinically and genetically distinct disorders of the auditory system. SNHL is associated with mutations in up to 150 genes. Among them is Cadherin 23 (CDH23), which is associated with both Usher syndrome and non-syndromic hearing loss. In the current study, we used WES to find the genetic cause of SNHL in an extended Iranian family. WES and subsequent Sanger sequencing confirmed the occurrence of a novel homozygote variant in the CDH23 gene (c.817T>C, p [...]