Fragile X syndrome
Open Access
- 9 April 2008
- journal article
- review article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 16 (6), 666-672
- https://doi.org/10.1038/ejhg.2008.61
Abstract
Fragile X syndrome, an X-linked dominant disorder with reduced penetrance, is associated with intellectual and emotional disabilities ranging from learning problems to mental retardation, and mood instability to autism. It is most often caused by the transcriptional silencing of the FMR1 gene, due to an expansion of a CGG repeat found in the 5′-untranslated region. The FMR1 gene product, FMRP, is a selective RNA-binding protein that negatively regulates local protein synthesis in neuronal dendrites. In its absence, the transcripts normally regulated by FMRP are over translated. The resulting over abundance of certain proteins results in reduced synaptic strength due to AMPA receptor trafficking abnormalities that lead, at least in part, to the fragile X phenotype.Keywords
This publication has 54 references indexed in Scilit:
- Correction of Fragile X Syndrome in MiceNeuron, 2007
- Fragile X mental retardation protein deficiency leads to excessive mGluR5-dependent internalization of AMPA receptorsProceedings of the National Academy of Sciences of the United States of America, 2007
- Suppression of two major Fragile X Syndrome mouse model phenotypes by the mGluR5 antagonist MPEPNeuropharmacology, 2005
- Pharmacological Rescue of Synaptic Plasticity, Courtship Behavior, and Mushroom Body Defects in a Drosophila Model of Fragile X SyndromeNeuron, 2005
- The mGluR theory of fragile X mental retardationTrends in Neurosciences, 2004
- Psychopharmacology in fragile X syndrome—Present and futureMental Retardation and Developmental Disabilities Research Reviews, 2004
- FMR1 and the fragile X syndrome: Human genome epidemiology reviewGenetics in Medicine, 2001
- Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradoxCell, 1991
- Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndromeCell, 1991
- Further segregation analysis of the fragile X syndrome with special reference to transmitting malesHuman Genetics, 1985