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: 25 August 2025 | Viewed by 70
Special Issue Editors
Interests: FMR1 gene; fragile X syndrome; fragile X premutation associated conditions; pharmacology
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
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Keywords
- FMR1 gene
- FMRP
- fragile X syndrome
- fragile X premutation-associated conditions (FXPAC)
- molecular mechanisms
- targeted treatment and gene therapy
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