Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

An ‘’Omic’’ Overview of Fragile X Syndrome

Version 1 : Received: 24 March 2021 / Approved: 25 March 2021 / Online: 25 March 2021 (16:22:35 CET)

A peer-reviewed article of this Preprint also exists.

Dionne, O.; Corbin, F. An “Omic” Overview of Fragile X Syndrome. Biology 2021, 10, 433. Dionne, O.; Corbin, F. An “Omic” Overview of Fragile X Syndrome. Biology 2021, 10, 433.


Fragile X syndrome (FXS) is a neurodevelopmental disorder associated with a wide range of cognitive, behavioral and medical problems. It arises from the silencing of the fragile X mental retardation 1 (FMR1) gene, and consequently, in the absence of its encoded protein, FMRP (Fragile X Mental Retardation Protein). FMRP is a ubiquitously expressed and multifunctional RNA-binding protein, primarily considered as a translational regulator. Pre-clinical studies of the past two decades have therefore focus on this function to relate FMRP’s absence to the molecular mechanisms underlying FXS physiopathology. Based on these data, successful pharmacological strategies were developed to rescue fragile X phenotype in animal models. Unfortunately, these results did not translate into human, as clinical trials using same therapeutic approaches did not reach the expected outcomes. These failures highlight the need to put into perspectives the different functions of FMRP in order to get a more comprehensive understanding of FXS pathophysiology. In this review, FMRP’s involvement on noteworthy molecular mechanisms are pointed out; ultimately contributing to various biochemicals alterations composing the fragile X phenotype.


Fragile X Syndrome; FMRP, RNA-binding protein; Physiopathology; Genomic; Transcriptomic; Proteomic; Metabolomic


Biology and Life Sciences, Biochemistry and Molecular Biology

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