Fragile X syndrome and fragile X-associated disorders

Abstract

<ns4:p>Fragile X syndrome (FXS) is caused by a full mutation on the<ns4:italic>FMR1</ns4:italic>gene and a subsequent lack of FMRP, the protein product of<ns4:italic>FMR1</ns4:italic>. FMRP plays a key role in regulating the translation of many proteins involved in maintaining neuronal synaptic connections; its deficiency may result in a range of intellectual disabilities, social deficits, psychiatric problems, and dysmorphic physical features. A range of clinical involvement is also associated with the<ns4:italic>FMR1</ns4:italic>premutation, including fragile X-associated tremor ataxia syndrome, fragile X-associated primary ovarian insufficiency, psychiatric problems, hypertension, migraines, and autoimmune problems. Over the past few years, there have been a number of advances in our knowledge of FXS and fragile X-associated disorders, and each of these advances offers significant clinical implications. Among these developments are a better understanding of the clinical impact of the phenomenon known as mosaicism, the revelation that various types of mutations can cause FXS, and improvements in treatment for FXS.</ns4:p>