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Genes
Special Issues
Molecular Genetics of Rare Disorders
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Molecular Genetics of Rare Disorders

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 10 September 2025 | Viewed by 269

Special Issue Editor

Dr. Miriam Lucia Carriero

E-Mail Website
Guest Editor
Department of Biomedicine and Prevention, University of Rome “Tor Vergata”, 00133 Rome, Italy
Interests: neurodevelopmental disorders; CRISPR-Cas9 gene editing; disease modeling; rare diseases; molecular genetics

Special Issue Information

Dear Colleagues,

Rare diseases affect a small portion of the population, but collectively impact millions worldwide. Approximately 80% of rare diseases have a genetic basis, making molecular genetics a crucial field for understanding their etiologies, improving diagnoses, and developing targeted therapies. Advances in next-generation sequencing, genome-wide association studies, and functional genomics have transformed our approach to understanding these conditions and significantly enhanced our ability to identify disease-causing variants, uncover novel gene–disease associations, and elucidate pathogenic mechanisms.

This Special Issue, Molecular Genetics of Rare Disorders, aims to highlight recent progress in the genetic and molecular characterization of rare disorders. We welcome original research and review articles covering novel disease gene discoveries, expanded phenotypic spectra, genotype–phenotype correlations, disease mechanisms, and therapeutic strategies. Contributions focusing on innovative diagnostic methodologies, including bioinformatics approaches, functional studies, and model systems, are also encouraged.

By bringing together cutting-edge studies in molecular genetics, this Special Issue seeks to advance our understanding of rare diseases, ultimately facilitating more accurate diagnoses and improved treatment options for affected individuals.

Dr. Miriam Lucia Carriero
Guest Editor

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 100 words) can be sent to the Editorial Office for announcement on this website.

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. Genes is an international peer-reviewed open access monthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). 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

  • rare diseases
  • molecular genetics
  • gene–disease associations
  • genotype–phenotype correlation
  • targeted gene therapy
  • next-generation sequencing
  • whole-genome sequencing
  • genome-wide association studies
  • functional genomics

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Further information on MDPI's Special Issue policies can be found here.

Published Papers (1 paper)

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10 pages, 1253 KiB  
Case Report
Dyggve–Melchior–Clausen Syndrome in Ecuador: Expanding Knowledge on a Rare Genetic Disorder
by Carlos Reyes-Silva, Joseline Gallardo-Vizuete, Judith Guzmán-Acán, Gabriela Jaramillo-Koupermann and Alejandro Cabrera-Andrade
Genes 2025, 16(5), 490; https://doi.org/10.3390/genes16050490 - 25 Apr 2025
Viewed by 149
Abstract
Background: Dyggve–Melchior–Clausen syndrome (DMC) is a rare autosomal recessive skeletal dysplasia characterized by dwarfism, coarse facial features, and intellectual disability. Caused by loss-of-function variants in the DYM gene, which encodes dymeclin, DMC is predominantly reported in consanguineous populations but remains poorly studied [...] Read more.
Background: Dyggve–Melchior–Clausen syndrome (DMC) is a rare autosomal recessive skeletal dysplasia characterized by dwarfism, coarse facial features, and intellectual disability. Caused by loss-of-function variants in the DYM gene, which encodes dymeclin, DMC is predominantly reported in consanguineous populations but remains poorly studied in South America. Methods: We report a 21-year-old Ecuadorian male with clinical features suggestive of DMC. Comprehensive clinical, radiological, and genetic evaluations were conducted, including clinical exome sequencing and Sanger sequencing, followed by an in silico analysis to assess the structural and functional consequences of the identified variant. Results: Exome sequencing identified a homozygous c.1878delA (p.Lys626fs) frameshift variant in the DYM gene, which was confirmed by Sanger sequencing as inherited from heterozygous parents. Variants of uncertain significance were detected in other skeletal dysplasia-related genes but did not correlate with the phenotype. A comprehensive review of reported DYM variants was also conducted. Conclusions: This report documents the first case of DMC in Ecuador and the second in South America, expanding the global understanding of DMC’s genetic diversity. It underscores the value of next-generation sequencing in rare disease diagnostics and highlights the critical need for inclusive genomic research in underrepresented populations to improve the understanding of genetic heterogeneity and rare disease epidemiology. Full article
(This article belongs to the Special Issue Molecular Genetics of Rare Disorders)
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