Neuroanatomical, molecular genetic, and behavioral correlates of fragile X syndrome

Brain Res Rev. 2007 Jan;53(1):27-38. doi: 10.1016/j.brainresrev.2006.06.001. Epub 2006 Jul 17.


Fragile X syndrome (FXS) is a leading cause of inherited mental retardation. In the vast majority of cases, this X-linked disorder is due to a CGG expansion in the 5' untranslated region of the fmr-1 gene and the resulting decreased expression of its associated protein, FMRP. FXS is characterized by a number of cognitive, behavioral, anatomical, and biological abnormalities. FXS provides a unique opportunity to study the consequence of mutation in a single gene on the development and proper functioning of the CNS. The current focus on the role of FMRP in neuronal maturation makes it timely to assemble the extant information on how reduced expression of the fmr-1 gene leads to neuronal dysmorphology. The purpose of this review is to summarize recent genetic, neuroanatomical, and behavioral studies of fragile X syndrome and to offer potential mechanisms to account for the pleiotropic phenotype of this disorder.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Brain / abnormalities
  • Brain / pathology
  • Brain / physiopathology*
  • Cytoskeleton / metabolism
  • Cytoskeleton / pathology
  • Fragile X Mental Retardation Protein / biosynthesis
  • Fragile X Mental Retardation Protein / genetics*
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / pathology
  • Fragile X Syndrome / physiopathology*
  • Gene Expression Regulation, Developmental / genetics*
  • Humans
  • Long-Term Potentiation / genetics
  • Mutation / genetics*
  • Phenotype
  • Receptors, Metabotropic Glutamate / metabolism


  • FMR1 protein, human
  • Receptors, Metabotropic Glutamate
  • metabotropic glutamate receptor type 1
  • Fragile X Mental Retardation Protein