Fragile X syndrome (FXS) is caused by mutation of a single gene (. FMR1) on the X chromosome and is the leading cause of inherited developmental disability, as well as the leading single gene cause of autism. Individuals with FXS have well-described physical and behavioral phenotypes; however, considerable variability in phenotype expression has been explained by a number of environmental, genetic, and biological/physiological factors. The brain and molecular genetic basis of FXS has been relatively well described through numerous human studies and animal models, and as such, it provides a useful model for understanding links between genes, brain, and behavior; specific conditions such as autism, attention-deficit/hyperactivity disorder, and anxiety disorders; and for testing pharmacological, behavioral, and gene therapies.
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