Fragile X syndrome

Definition:

Fragile X syndrome (FXS) is a cognitive disorder caused by silencing of the fragile X mental retardation 1 gene (FMR1). Absence of the associated protein FMRP leads to the dysregulation of many genes creating a phenotype of ADHD, anxiety, epilepsy and autism.There are also several physical features commonly associated with FXS, including elongated faces, prominent ears, and macroorchidism. The most prevalent genetic aberration at the FMR1 locus arises from a noncoding CGG repeat in the 5'untranslated region.

References:

[1]. Balpreet Bhogal, et al. Fragile X syndrome and model organisms: identifying potential routes of therapeutic intervention. Dis Model Mech. 2010 Nov-Dec;3(11-12):693-700. [Content Brief]

[2]. Brad E Pfeiffer, et al. The state of synapses in fragile X syndrome. Neuroscientist. 2009 Oct;15(5):549-67. [Content Brief]

[3]. Ilaria Napoli, et al. The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP. Cell. 2008 Sep 19;134(6):1042-54. [Content Brief]

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