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Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Genetics and Genomics".

Deadline for manuscript submissions: closed (20 September 2025) | Viewed by 6980

Special Issue Editors

Dr. Yulin Jin

E-Mail Website
Guest Editor
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: neurological disorders; genomics; genetics; epigenetics; computational biology; gene therapy
Special Issues, Collections and Topics in MDPI journals
Dr. Yujing Li

E-Mail Website
Guest Editor
Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA
Interests: non-coding RNA; epigenetics; genetics; neuroscience; genomics; biochemistry
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Hereditary diseases, caused by genetic mutations passed down through generations, disrupt essential biological processes and affect millions of individuals globally. In appreciation of breakthroughs in molecular genetics and genomics, researchers have gained valuable insights into the causes of these diseases, allowing for the identification of specific genetic variants, as well as the molecular factors and biological pathways they disrupt. Recent advances in single-cell and spatial techniques enable the observation of spatial–temporal changes at the cellular level, providing a more detailed view of disease progression. These advancements are opening doors to innovative therapies that target disease mechanisms at the molecular level, such as CRISPR-based gene editing, antisense oligonucleotide treatments, and precision drugs designed for specific mutations.

This Special Issue invites the submission of research articles, reviews, and perspectives that shed light on the molecular mechanisms and genomic aspects of hereditary diseases, particularly those affecting brain health. Topics of interest include, but are not limited to, the following: the identification of novel genetic mutations and pathways that drive disease; genomic, transcriptomic, and epigenetic studies that reveal new aspects of disease biology; emerging therapies, including gene therapy, RNA-based treatments, and small-molecule drugs tailored to genetic profiles; and in-depth insights into genetic regulation, epigenetics, and their roles in disease onset and progression. By gathering cutting-edge research in these areas, we hope that this Special Issue will support researchers, clinicians, and anyone working to improve therapies and outcomes for patients with genetic disorders.

Dr. Yulin Jin
Dr. Yujing Li
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 250 words) can be sent to the Editorial Office for assessment.

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.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • hereditary diseases
  • genetics and genomics
  • molecular mechanism
  • gene regulation
  • therapeutic approach

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Published Papers (4 papers)

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Research

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22 pages, 3134 KB  
Article
Experimental Mis-Splicing Assessment and ACMG/AMP-Guided Classification of 47 ATM Splice-Site Variants
by Inés Llinares-Burguet, Lara Sanoguera-Miralles, Elena Bueno-Martínez, Ada Esteban-Sanchez, Daniel Romano-Medina, Lobna Ramadane-Morchadi, Alicia García-Álvarez, Pedro Pérez-Segura, Doug F. Easton, Peter Devilee, Maaike P. G. Vreeswijk, Miguel de la Hoya and Eladio A. Velasco-Sampedro
Int. J. Mol. Sci. 2026, 27(2), 765; https://doi.org/10.3390/ijms27020765 - 12 Jan 2026
Viewed by 1020
Abstract
Pathogenic germline variants in the ATM gene are associated with a 20–30% lifetime risk of breast cancer. Crucially, a relevant fraction of loss-of-function variants in breast cancer susceptibility genes disrupts pre-mRNA splicing. We aimed to perform splicing analysis of ATM splice-site variants identified [...] Read more.
Pathogenic germline variants in the ATM gene are associated with a 20–30% lifetime risk of breast cancer. Crucially, a relevant fraction of loss-of-function variants in breast cancer susceptibility genes disrupts pre-mRNA splicing. We aimed to perform splicing analysis of ATM splice-site variants identified in the large-scale sequencing project BRIDGES (Breast Cancer After Diagnostic Gene Sequencing). To this end, we bioinformatically selected 47 splice-site variants across 17 exons that were genetically engineered into three minigenes and assayed in MCF-7 cells. Aberrant splicing was observed in 38 variants. Of these, 30 variants, including 7 missense, yielded no or negligible expression of the minigene full-length (mgFL) transcript. A total of 69 different transcripts were characterized, 48 of which harboured a premature termination codon. Some variants, such as c.2922-1G>A, generated complex patterns with up to 10 different transcripts. Alternative 3′ or 5′ splice-site usage was the predominant event. Integration of ATM minigene read-outs into the ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based specifications for the ATM gene enabled the classification of 30 ATM variants as pathogenic or likely pathogenic and 9 as likely benign. Overall, splicing assays provide key information for variant interpretation and the clinical management of patients. Full article
(This article belongs to the Special Issue Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies)
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13 pages, 1510 KB  
Article
The Role of Energy Homeostasis-Associated Gene Expression and Serum Adropin Levels in Patients with Familial Mediterranean Fever
by Durkadin Demir Eksi, Gulay Gulbol Duran, Muhammet Murat Celik, Yunus Emre Eksi and Ramazan Gunesacar
Int. J. Mol. Sci. 2025, 26(5), 2371; https://doi.org/10.3390/ijms26052371 - 6 Mar 2025
Viewed by 1540
Abstract
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease primarily affecting populations in the Mediterranean region. The pathogenesis of FMF and the roles of various molecules remain unclear. Adropin, a protein encoded by the Energy Homeostasis-Associated Gene (ENHO), is involved in [...] Read more.
Familial Mediterranean Fever (FMF) is a genetic autoinflammatory disease primarily affecting populations in the Mediterranean region. The pathogenesis of FMF and the roles of various molecules remain unclear. Adropin, a protein encoded by the Energy Homeostasis-Associated Gene (ENHO), is involved in energy metabolism and inflammation. This study aimed to explore the relationship between ENHO expression, Adropin levels, and FMF, examining their correlations with disease characteristics. This study included 30 patients clinically diagnosed with FMF and 35 healthy controls. The ENHO expression in peripheral blood mononuclear cells was assessed using a qRT-PCR, and the serum Adropin levels were measured via ELISA. The ENHO expression was significantly elevated in the FMF patients compared to the controls (p = 0.0007), while no significant differences were observed in the serum Adropin levels between the groups (p = 0.81). A correlation analysis revealed a negative association between the ENHO expression and age (r = −0.47, p = 0.009), whereas the serum Adropin levels were positively correlated with age, disease onset, and diagnostic delay (p < 0.05). No significant associations were found between the ENHO expression and Adropin levels or FMF clinical features. These findings suggest that increased ENHO expression may play a role in FMF pathophysiology, potentially as a compensatory mechanism. The correlation between Adropin levels and disease onset indicates a potential protective role. Further studies are needed to confirm these findings. Full article
(This article belongs to the Special Issue Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies)
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Review

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24 pages, 649 KB  
Review
Adams–Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations
by Ioana Badiu Tișa, Anamaria Cozma-Petruț, Alin-Dan Chiorean, Doina Miere, Lorena Filip, Roxana Banc, Oana Mîrza and Mădălina Adriana Bordea
Int. J. Mol. Sci. 2026, 27(1), 173; https://doi.org/10.3390/ijms27010173 - 23 Dec 2025
Viewed by 1255
Abstract
The present review aims to provide a comprehensive overview of the current literature on Adams–Oliver syndrome (AOS), synthesizing information on its clinical features, genetic and molecular underpinnings, nutritional aspects, and key nursing care considerations. AOS is a rare congenital disorder. Its genetic basis [...] Read more.
The present review aims to provide a comprehensive overview of the current literature on Adams–Oliver syndrome (AOS), synthesizing information on its clinical features, genetic and molecular underpinnings, nutritional aspects, and key nursing care considerations. AOS is a rare congenital disorder. Its genetic basis is heterogeneous, involving mutations in at least six key genes (ARHGAP31, RBPJ, NOTCH1, DLL4, DOCK6, and EOGT), which primarily affect vascular development through pathways like Notch signaling and Rho GTPase regulation. The management of AOS is complex and requires a multidisciplinary approach. The clinical presentation of AOS is highly variable, ranging from mild to severe and includes a wide spectrum of clinical manifestations, most notably aplasia cutis congenita and terminal transverse limb defects. The underlying molecular mechanisms predominantly point towards vasculopathy, disrupting embryonic development. Emerging evidence also highlights the presence of nutritional issues, such as poor feeding and growth failure, which are often overlooked. Management demands an integrated, multidisciplinary management approach, requiring coordinated effort from specialists in pediatrics, genetics, molecular biology, cardiology, surgery, and nutrition. Specialized nursing care is crucial for managing complex symptoms, particularly wound care for aplasia cutis, and for providing family support. Full article
(This article belongs to the Special Issue Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies)
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20 pages, 2524 KB  
Review
Skin Signals: Exploring the Intersection of Cancer Predisposition Syndromes and Dermatological Manifestations
by Ilse Gabriela Ochoa-Mellado, Alejandra Padua-Bracho, Paula Cabrera-Galeana and Rosa María Alvarez-Gómez
Int. J. Mol. Sci. 2025, 26(13), 6140; https://doi.org/10.3390/ijms26136140 - 26 Jun 2025
Cited by 2 | Viewed by 2385
Abstract
Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review provides a comprehensive overview of the dermatological signs associated with these syndromes, aiming to facilitate their recognition in clinical practice. Hereditary Breast and [...] Read more.
Cutaneous manifestations can serve as early and sometimes the first clinical indicators in various hereditary cancer predisposition syndromes. This review provides a comprehensive overview of the dermatological signs associated with these syndromes, aiming to facilitate their recognition in clinical practice. Hereditary Breast and Ovarian Cancer syndrome is notably linked to an increased risk of melanoma. BAP1 tumor predisposition syndrome is characterized by BAP1-inactivated melanocytic tumors. Muir–Torre syndrome, a variant of Lynch syndrome, presents with distinctive cutaneous neoplasms such as sebaceous carcinomas, sebaceous adenomas, and keratoacanthomas. PTEN hamartoma tumor syndrome commonly features hamartomatous growths, trichilemmomas, acral keratoses, oral papillomas, and genital lentiginosis. Gorlin syndrome is marked by basal cell carcinomas and palmoplantar pits, while Peutz–Jeghers syndrome is identified by mucocutaneous pigmentation. In familial adenomatous polyposis, the cutaneous findings include epidermoid cysts, fibromas, desmoid tumors, and lipomas. Additionally, we examined monogenic disorders associated with cancer risk and skin involvement, such as xeroderma pigmentosum, neurofibromatosis type 1, familial atypical multiple-mole melanoma syndrome, and Fanconi anemia. The early recognition of these dermatologic features is essential for a timely diagnosis and the implementation of appropriate surveillance strategies in individuals with hereditary cancer syndromes. Full article
(This article belongs to the Special Issue Human Hereditary Diseases: Advances in Molecular Genetics, Genomics and Therapeutic Strategies)
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