Journal
CURRENT PEDIATRIC REVIEWS
Volume 4, Issue 1, Pages 40-52Publisher
BENTHAM SCIENCE PUBL LTD
DOI: 10.2174/157339608783565770
Keywords
-
Categories
Funding
- NICHD [HD036071, HD02274]
- Autism Speaks
- Centers for Disease Control and Prevention collaborative agreement [U10/CCU925 123]
- National Fragile X Foundation
- UC Davis M.I.N.D. Institute
- Clinical Translational Science Center (CTSC) at UC Davis from the National Center for Research Resources [UL1 RR024146]
- Health and Human Services Administration on Developmental Disabilities [90DD 0596]
Ask authors/readers for more resources
CGG-repeat expansion mutations of the fragile X mental retardation 1 (FMR1) gene are the leading known cause of autism and autism spectrum disorders (ASD). Full mutation expansions (>200 CGG repeats) of the gene are generally silenced, resulting in absence of the FMR1 protein and fragile X syndrome. By contrast, smaller expansions in the premutation range (55-200 CGG repeats) result in excess gene activity and RNA toxicity, which is responsible for the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS), and likely additional cases of developmental delay and autism. Thus, the FMR1 gene is causative of a common (autism) phenotype via two entirely different pathogenic mechanisms, RNA toxicity and gene silencing. The study of this gene and its pathogenic mechanisms therefore represents a paradigm for understanding gene-brain relationships and the means by which diverse genetic mechanisms can give rise to a common behavioral phenotype.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available