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Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics
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Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 May 2026 | Viewed by 8846

Special Issue Editor

Dr. Ivano Condò

E-Mail Website
Guest Editor
Department of Biomedicine and Prevention, School of Medicine, University of Rome Tor Vergata, 00133 Rome, Italy
Interests: frataxin; Friedreich’s ataxia; mitochondria; programmed cell death; molecular medicine
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

The concept of Mendelian inheritance originated almost two centuries ago, and it still drives the identification of human genetic disorders today. The recessive or dominant mutations in a single gene designate a monogenic disease, typically stemming from a molecular alteration in the functions, regulations, or physical interactions of the protein encoded by the affected gene. Starting in the 1980s, the molecular studies of monogenic diseases have led to the discovery of about 5000 causative genes. This provides an unparalleled basis for future understanding of the molecular mechanisms underlying each disorder and translation into specific therapeutics. In addition, the spectrum of genotype–phenotype relationships is constantly growing. Molecular techniques for genetic diagnosis continue to evolve to allow for the correct identification of rare and common monogenic disorders. We are constantly faced with the need to identify new disease-causing genes, novel pathogenic mutations in a known causative gene, and undisclosed mechanisms that explain molecular pathogenesis. Finally, by understanding the full underlying biology of a given monogenic disease, we have a great opportunity for the rational development of novel therapies that are vital to many patients currently unable to receive effective treatment.

This Special Issue, entitled “Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics”, aims to collect interdisciplinary knowledge from relevant studies in molecular genetics, molecular biology, biochemistry, and molecular medicine. Original research articles and systematic reviews are welcome to be submitted.

Dr. Ivano Condò
Guest Editor

Manuscript Submission Information

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Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

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Keywords

  • cell death pathways
  • DNA sequencing
  • drug discovery
  • gene expression
  • gene mutation
  • genetic diagnosis
  • molecular signaling
  • molecular therapy
  • monogenic disease

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Published Papers (4 papers)

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14 pages, 564 KB  
Article
Hypertrophic Cardiomyopathy Genotype–Phenotype Analysis in Lithuanian Single-Center Cohort
by Marius Šukys, Eglė Ereminienė, Kristina Aleknavičienė, Rimvydas Jonikas, Eglė Tamulėnaitė-Stuokė, Joana Ažukaitė and Rasa Ugenskienė
Int. J. Mol. Sci. 2026, 27(1), 221; https://doi.org/10.3390/ijms27010221 - 25 Dec 2025
Viewed by 673
Abstract
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania’s tertiary care center. All patients with diagnosed [...] Read more.
Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania’s tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%) received a genetic diagnosis. The most commonly affected genes were MYBPC3 and MYH7. Notably, two patients were found to have LEOPARD syndrome due to PTPN11 gene variants. Our results indicate that patients with an identified pathogenic variant were diagnosed with HCM at a younger age and exhibited a more severe phenotype (greater septal wall thickness), although no clear correlation with family history was observed. In addition, four novel MYBPC3 variants, c.3467dup, c.1503C>G, c.2610dup, and c.1251del, were identified. Full article
(This article belongs to the Special Issue Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics)
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15 pages, 1227 KB  
Article
Nanopore Long-Read Sequencing as a First-Tier Diagnostic Test to Detect Repeat Expansions in Neurological Disorders
by Eddy N. de Boer, Arjen J. Scheper, Dennis Hendriksen, Bart Charbon, Gerben van der Vries, Annelies M. ten Berge, Petra M. Grootscholten, Henny H. Lemmink, Jan D. H. Jongbloed, Laura Bosscher, Nine V. A. M. Knoers, Morris A. Swertz, Birgit Sikkema-Raddatz, Dorieke J. Dijkstra, Lennart F. Johansson and Cleo C. van Diemen
Int. J. Mol. Sci. 2025, 26(7), 2850; https://doi.org/10.3390/ijms26072850 - 21 Mar 2025
Cited by 3 | Viewed by 5151
Abstract
Inherited neurological disorders, such as spinocerebellar ataxia (SCA) and fragile X (FraX), are frequently caused by short tandem repeat (STR) expansions. The detection and assessment of STRs is important for diagnostics and prognosis. We tested the abilities of nanopore long-read sequencing (LRS) using [...] Read more.
Inherited neurological disorders, such as spinocerebellar ataxia (SCA) and fragile X (FraX), are frequently caused by short tandem repeat (STR) expansions. The detection and assessment of STRs is important for diagnostics and prognosis. We tested the abilities of nanopore long-read sequencing (LRS) using a custom panel including the nine most common SCA-related genes and FraX and created raw data to report workflow. Using known STR lengths for 23 loci in 12 patients, a pipeline was validated to detect and report STR lengths. In addition, we assessed the capability to detect SNVs, indels, and the methylation status in the same test. For the 23 loci, 22 were concordant with known STR lengths, while for the last, one of three replicates differed, indicating an artefact. All positive control STRs were detected as likely pathogenic, with no additional findings after a visual assessment of repeat motifs. Out of 226 SNV and Indel variants, two were false positive and one false negative (accuracy 98.7%). In all FMR1 controls, a methylation status could be determined. In conclusion, LRS is suitable as a diagnostic workflow for STR analysis in neurological disorders and can be generalized to other diseases. The addition of SNV/Indel and methylation detection promises to allow for a one-test-fits-all workflow. Full article
(This article belongs to the Special Issue Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics)
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12 pages, 1616 KB  
Case Report
Prenatal Molecular Diagnosis of COL2A1-Associated Stickler Syndrome: Genotype–Phenotype Correlation in a Resource-Limited Healthcare Setting
by Elitsa Gyokova, Eleonora Hristova-Atanasova, Zlatko Kirovakov and Kamelia Dimitrova
Int. J. Mol. Sci. 2026, 27(5), 2227; https://doi.org/10.3390/ijms27052227 - 27 Feb 2026
Viewed by 451
Abstract
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial [...] Read more.
Stickler syndrome is a monogenic connective tissue disorder primarily caused by pathogenic variants in collagen-related genes, most commonly COL2A1. Prenatal diagnosis remains challenging, particularly in healthcare systems with limited access to molecular genetic testing. We report a prenatal case of suspected craniofacial anomaly detected on second-trimester ultrasound. Fetal DNA obtained by amniocentesis underwent next-generation sequencing. Parental testing was performed to assess inheritance. It was confirmed that autosomal dominant Stickler syndrome type I (ORPHA:90653) was caused by a heterozygous pathogenic frameshift variant in COL2A1 (c.3137del) that was inherited from the mother and identified in the fetus. Micrognathia was identified during prenatal ultrasound, and postnatal evaluation revealed characteristics that were consistent with Pierre Robin sequence and connective tissue involvement. The molecular discoveries elucidated the observed phenotype and facilitated multidisciplinary perinatal management. This case underscores the indispensable function of molecular diagnostics in the prenatal identification of monogenic disorders, including Stickler syndrome, in cases where conventional karyotyping is inadequate. Targeted clinical surveillance and family counseling are facilitated by early genetic confirmation. The report also emphasizes the necessity of incorporating molecular diagnostics into routine prenatal care for rare genetic diseases and the systemic limitations in access to genomic testing. Although the identified variant has been previously reported, this case highlights the clinical and diagnostic value of prenatal molecular confirmation in a resource-limited healthcare setting. Full article
(This article belongs to the Special Issue Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics)
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11 pages, 34421 KB  
Case Report
Early Diagnosis and Follow-Up of a Novel Homozygous Mutation in SOST Gene in a Child with Recurrent Facial Palsy: A Case Report and Review of the Literature
by Fabio Acquaviva, Giorgia Bruno, Federica Palladino, Alfonso Rubino, Carmela Russo, Maria Pandolfi, Eugenio Maria Covelli, Eloisa Evangelista, Luigia De Falco, Alfonsina Tirozzi, Daniele De Brasi and Antonio Varone
Int. J. Mol. Sci. 2025, 26(17), 8175; https://doi.org/10.3390/ijms26178175 - 22 Aug 2025
Viewed by 1310
Abstract
Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a [...] Read more.
Recurrent facial palsy is a rare event in the pediatric population, mostly idiopathic or associated with common comorbidities or, rarely, observed in syndromic conditions. However, some cases are difficult to explain and need more accurate diagnostic approaches. In this work, we describe a pediatric case of recurrent facial palsy secondary to hyperostosis of the skull and narrowing of the neural foramina related to a SOST-related sclerosing bone dysplasia. To our knowledge, this is the first Italian case that is also related to a novel loss-of-function variant in the SOST gene. We highlight the clinical relevance of a proper early diagnosis and the need for correct monitoring of the clinical evolution, considering the natural history of the disease, to prevent/reduce severe neurological complications. Full article
(This article belongs to the Special Issue Molecular Studies of Monogenic Diseases: Diagnostics, Mechanisms and Therapeutics)
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