The neurobiology of fragile X syndrome

Fragile X syndrome, the leading known cause of heritable mental retardation, is associated with mutations of the FMR1 gene on the X chromosome. Neurobiological research has characterized several gene‐brain‐function correlations in fragile X syndrome, although no complete pathogenic mechanisms have yet been elucidated. This report summarizes current knowledge of the neurobiology of fragile X syndrome. Published research findings are presented along with a discussion of the relevance of neurobiological data to the neurobehavioral phenotype and genetic mechanisms associated with the FMR1 mutation.