Special Issue "Fragile X Syndrome Genetics"
Deadline for manuscript submissions: 15 February 2022.
2. Faculty of Medicine, Dentistry and Health Sciences, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia
Interests: genomics; fragile X syndrome; FMR1; FMRP; CGG; epigenetics; imprinting disorders; cohort studies; clinical trials
Special Issues and Collections 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
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
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 papers will be 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 2000 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.
- fragile X syndrome
- fragile X intellectual disability
- autism and fragile X
- fragile X biomarkers
- fragile X treatment trials
The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.
1. Development of a quantitative FMRP assay for mouse tissue applications
2. Mechanisms of genome instability in the Fragile X-related disorders
3. Beyond trinucleotide repeat expansion in Fragile X syndrome: rare coding and non-coding variants in FMR1 and associated phenotypes
4. Behaviour problems and social competence in Fragile X Syndrome: A systematic review
5. Female FMR1 full-mutation patients: clinical and molecular characterization of a cohort of patients