Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
5.5
2.8
Journals
Genes
Special Issues
Fragile X Syndrome and Fragile X Premutation Associated Conditions
share announcement

Fragile X Syndrome and Fragile X Premutation Associated Conditions

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

Deadline for manuscript submissions: closed (10 January 2026) | Viewed by 2254

Special Issue Editors

Dr. Dragana D. Protic

E-Mail Website
Guest Editor
Faculty of Medicine, Belgrade University, Belgrade, Serbia
Interests: FMR1 gene; fragile X syndrome; fragile X premutation associated conditions; pharmacology
Dr. Maja Stojković

E-Mail Website
Co-Guest Editor
Faculty of Medicine, Belgrade University, Belgrade, Serbia
Interests: fragile X-associated conditions; basic pharmacology in fragile X field; FMR1 gene mutation; FMRP

Special Issue Information

Dear Colleagues, 

Fragile X Syndrome (FXS) and fragile X premutation-associated conditions (FXPACs) represent a spectrum of genetic conditions with diverse clinical manifestations, including neurodevelopmental, neurological, gynecological and psychiatric challenges. These conditions not only affect individuals with the full mutation of the FMR1 gene, but also those carrying the FMR1 premutation, contributing to complex health issues such as fragile X-associated tremor/ataxia syndrome (FXTAS), fragile X-associated primary ovarian insufficiency (FXPOI) and fragile X-associated neuropsychiatric disorders (FXAND).

The aim of this Special Issue is to provide a comprehensive platform for the latest research, genetic, preclinical and clinical insights into FXS and FXPAC. It will explore a wide range of topics, including molecular mechanisms, clinical management, therapeutic approaches and impact on quality of life.

Since the discovery of the FMR1 gene mutation, significant advances have been made in understanding the pathophysiology of these disorders. However, there remains a need for continued research into innovative treatments and support strategies for affected individuals and their families.

We invite submissions of original research articles, reviews, clinical studies, that contribute to advancing knowledge in this field. This Special Issue welcomes all types of manuscripts, encouraging a multidisciplinary approach to improve patient care and foster scientific collaboration.

Dr. Dragana D. Protic
Guest Editor

Dr. Maja Stojković
Co-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 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. 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

  • FMR1 gene
  • FMRP
  • fragile X syndrome
  • fragile X premutation-associated conditions (FXPAC)
  • molecular mechanisms
  • targeted treatment and gene therapy

Benefits of Publishing in a Special Issue

  • Ease of navigation: Grouping papers by topic helps scholars navigate broad scope journals more efficiently.
  • Greater discoverability: Special Issues support the reach and impact of scientific research. Articles in Special Issues are more discoverable and cited more frequently.
  • Expansion of research network: Special Issues facilitate connections among authors, fostering scientific collaborations.
  • External promotion: Articles in Special Issues are often promoted through the journal's social media, increasing their visibility.
  • Reprint: MDPI Books provides the opportunity to republish successful Special Issues in book format, both online and in print.

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

Published Papers (2 papers)

Download All Papers
Order results
Result details
Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:

Research

17 pages, 1922 KB  
Article
Foundations of an Ovine Model of Fragile X Syndrome
by Victoria Hawkins, Skye R. Rudiger, Clive J. McLaughlan, Jennifer M. Kelly, Klaus Lehnert, Jessie C. Jacobsen, Renee R. Handley, Kimiora Henare, Paul J. Verma and Russell G. Snell
Genes 2026, 17(2), 152; https://doi.org/10.3390/genes17020152 - 28 Jan 2026
Viewed by 674
Abstract
Background: Fragile X Syndrome (FXS) is an X-linked neurodevelopmental disorder characterised by intellectual disability, developmental delays, anxiety, and social and behavioural challenges. Currently, no effective treatments exist to address the root cause of FXS. Mouse models are the most widely used for studying [...] Read more.
Background: Fragile X Syndrome (FXS) is an X-linked neurodevelopmental disorder characterised by intellectual disability, developmental delays, anxiety, and social and behavioural challenges. Currently, no effective treatments exist to address the root cause of FXS. Mouse models are the most widely used for studying molecular pathogenesis and conducting preclinical treatment testing. However, therapeutic interventions that show promise in rodent models have yet to succeed in clinical trials. After evaluating the current models, we have developed an ovine model to address this clinical translation gap. We expect this model to more accurately reflect the human condition in brain size, structure, and neurodevelopmental trajectory. We aim to establish this model as a valuable preclinical platform for testing therapies for FXS. Methods: To generate the sheep model, we used CRISPR-Cas9 dual-guide editing to knock out the Fragile X Messenger Ribonucleoprotein 1 (FMR1) gene in ovine embryos. Results: Two founder animals were created, one ram (male) and one ewe (female), both of which carried FMR1 gene knockouts. The ewe carries inactivating mutations on both alleles, with the edits in both animals resulting in no detectable Fragile X Messenger Ribonucleoprotein (FMRP) as expected. Both founders have undergone molecular characterisation and basic health checks, with the female founder showing increased joint flexibility, a characteristic of FXS. The ram has been used for breeding, with the successful transmission of the edited allele to his offspring. Importantly, specific lamb cohorts for postnatal treatment testing can be produced efficiently utilising accelerated breeding methods and preimplantation selection. Full article
(This article belongs to the Special Issue Fragile X Syndrome and Fragile X Premutation Associated Conditions)
►▼ Show Figures

Figure 1

25 pages, 2311 KB  
Article
Reduced Sensorimotor, Working Memory, and Episodic Memory Abilities in Aging Female FMR1 Premutation Carriers with and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)
by Kristen McGatlin, Robin L. Shafer, Kathryn E. Unruh, Cassandra J. Stevens, Sophia G. Peterson, Richard M. Dubinsky, Andrea P. Lee, Flora Tassone, Randi J. Hagerman, Heather Bailey and Matthew W. Mosconi
Genes 2025, 16(11), 1331; https://doi.org/10.3390/genes16111331 - 4 Nov 2025
Cited by 1 | Viewed by 992
Abstract
Background/Objectives: Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by tremor, gait ataxia, and cerebellar white matter degeneration, along with possible cognitive and cerebral changes. Although diagnostic criteria were originally developed in males, emerging evidence suggests that FXTAS may present differently in females. The [...] Read more.
Background/Objectives: Fragile X-associated tremor/ataxia syndrome (FXTAS) is characterized by tremor, gait ataxia, and cerebellar white matter degeneration, along with possible cognitive and cerebral changes. Although diagnostic criteria were originally developed in males, emerging evidence suggests that FXTAS may present differently in females. The present study examined sensorimotor and memory features of aging in female premutation carriers with (FXTAS+) and without FXTAS (FXTAS−). Methods: We studied 51 female premutation carriers (FXTAS+ = 16, FXTAS− = 35) and 24 age-matched female controls. Participants ranged in age from 47–80 years. All participants completed genetic testing, clinical evaluations, T2-weighted MRIs, and quantitative assessments of sensorimotor (precision grip force task) and memory (reading span; visual paired associates task) functions. Results: During precision grip testing, FXTAS+ carriers showed higher sustained force regularity than FXTAS− carriers (p = 0.03, d = 1.0) and controls (p = 0.004, d = 1.1) at low gain levels only. FXTAS+ participants were slower than controls on motor reaction time (p = 0.009, d = 0.82). Initial force output was higher in FXTAS+ than FXTAS− carriers (p = 0.03, d = 1.0) and controls (p = 0.03, d = 1.0) but at low gain only. FXTAS+ carriers exhibited poorer working memory than FXTAS− carriers (p = 0.03, d = 0.91) and controls (p = 0.02, d = 1.0). During a long-term memory task, FXTAS+ participants were less accurate than FXTAS− carriers (p = 0.04, d = 0.86) and controls (p = 0.004, d = 1.1) and showed increased reaction times relative to FXTAS− carriers (p = 0.03, d = −0.82) and controls (p = 0.01, d = −1.2). Conclusions: Together, these findings indicate that FXTAS+ females exhibit distinct motor and cognitive impairments, underscoring the value of quantitative behavioral measures for detecting and tracking neurodegenerative progression in female premutation carriers. Full article
(This article belongs to the Special Issue Fragile X Syndrome and Fragile X Premutation Associated Conditions)
►▼ Show Figures

Figure 1

Show export options expand_more Show export options expand_less
Select all
Export citation of selected articles as:
 
Displaying articles 1-2
Back to TopTop