Clinical Management of Fragile X Syndrome

Running head:ANNOTATED BIBLIOGRAPHY
Single Trait Genetic Disorder (Fragile X Syndrome)
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ANNOTATED BIBLIOGRAPHY1
Berry-Kravis, E., Des Portes, V., Hagerman, R., Jacquemont, S., Charles,
P., Visootsak, J., ... & Barth, G. M. (2016). Mavoglurant in fragile X
syndrome: results of two randomized, double-blind, placebo-controlled
trials. Science translational medicine, 8(321), 321ra5-321ra5.
10.1126/scitranslmed.aab4109
This paper focuses on a management strategy of Fragile X Syndrome, which is based
on the downregulation of a hyperactive glutamate signaling pathway (mGluR). Evidence
acquired from the mouse model of the disorder shows the same. According to a pilot study,
downregulation of the pathway resulted in improvement in behavior problems, specifically in
individuals carrying a methylation marker. While this method may be possible, it has shown
no promising results in larger clinical trials yet.
Ciaccio, C., Fontana, L., Milani, D., Tabano, S., Miozzo, M., & Esposito, S.
(2017). Fragile X syndrome: a review of clinical and molecular
diagnoses. Italian journal of pediatrics, 43(1), 39.
https://doi.org/10.1186/s13052-017-0355-y
This paper provides an overview of the molecular aspects of Fragile X Syndrome to
influence accurate diagnostic procedures for it. This disorder is caused by a mutation in the
FMR1 gene. The majority of the patients have a CGG repeat in the 5’UTR region of the gene.
The treatments of this condition target the symptoms of the condition rather than the disorder
as a whole. However, studies are being conducted for better therapy, such as reversal of FMR
protein deficiency. The clinical management of this condition is complex, and due to the
large prevalence, it may pose a significant social burden.