Open Access
Fragile X syndrome: from gene discovery to therapy
Inge Heulens1,Frank Kooy1
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium
DOI: 10.2741/3785 Volume 16 Issue 4, pp.1211-1232
Published: 01 January 2011
(This article belongs to the Special Issue Recent progress in reproductive biology)

A dynamic mutation in the fragile X mental retardation 1 gene, FMR1, was found to cause fragile X syndrome almost 20 years ago. Since, a wealth of information regarding the function of the gene has been gathered. It plays a role in RNA transport and stability and RNA-binding influences the function of a multitude of other genes. In this review, we focus on the recent knowledge of molecular and biochemical pathways shown to be relevant in the fragile X syndrome and how these insights have led to a first series of clinical trials in fragile X patients.

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Inge Heulens, Frank Kooy. Fragile X syndrome: from gene discovery to therapy. Frontiers in Bioscience-Landmark. 2011. 16(4); 1211-1232.