Fragile X Syndrome Genetics
A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Molecular Genetics and Genomics".
Deadline for manuscript submissions: closed (10 August 2022) | Viewed by 41326
Special Issue Editors
2. Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Parkville 3052, Australia
Interests: genomics; fragile X syndrome; FMR1; FMRP; CGG; epigenetics; imprinting disorders; cohort studies; clinical trials
Special Issues, Collections and Topics in MDPI journals
2. Institute for Basic Research in Developmental Disabilities, Staten Island, New York, USA
Interests: developmental disabilities; fragile X syndrome; FMR1; FMRP; autism; progeria; aging; treatment trials
Special Issue Information
Dear Colleagues,
Fragile X syndrome (FXS) is the most common inherited form of intellectual disability and the leading single-gene cause of autism. FXS is usually caused by a CGG trinucleotide expansion to greater than 200 repeats, inducing epigenetic silencing of the fragile X gene, FMR1, and loss of its protein product, FMRP, essential for normal neurodevelopment. Since the discovery of the causative mechanism of FXS around 1991, there has been rapid progress in better understanding FXS neurogenetics and developing improved diagnostic and screening techniques, as well as potential targeted therapies. Preclinical trials that assessed treatments for pathways dysregulated due to loss of FMRP were highly successful in FMR1 knockout mouse models. Unfortunately, successful treatment trials in mice have not had similar improved outcomes in FXS patient trials. One possible explanation for the lack of translation of the preclinical success is that KO mouse models do not fully reflect the underlying biology of FXS in humans where mosaicism for active and inactive alleles plays a significant role.
This Special Issue will comprise reviews and original research articles focused on the recent advances in genetics/genomics testing; the contribution of mosaicism and epigenetic processes; and the clinical description, co-morbidities, biomarkers, and natural history of FXS. Current and future directions with a focus on improved screening, diagnosis, and treatment will be addressed in this issue.
Prof. David E. Godler
Prof. Dr. William Ted Brown
Guest Editors
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Keywords
- fragile X syndrome
- FMR1
- FMRP
- mosaicism
- fragile X intellectual disability
- autism and fragile X
- fragile X biomarkers
- fragile X treatment trials
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