Fragile X syndrome at the turn of the century

Mol Med Today. 2000 May;6(5):193-8. doi: 10.1016/s1357-4310(00)01674-9.


Fragile X syndrome is not only the most common form of inherited cognitive impairment, it is also one of the most frequent single gene disorders. It is caused by a stretch of CGG-repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no fragile X protein is produced and disease results. Since the mutation was discovered, nearly a decade of research has revealed a wealth of information regarding the fragile X gene and its possible function within the cell. The fragile X story also provides a sobering example of how much time and effort might be necessary to develop beneficial treatment through understanding gene function.

Publication types

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

MeSH terms

  • Animals
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / therapy
  • Humans
  • Male
  • Mice
  • Mice, Knockout
  • Minisatellite Repeats
  • Mutation
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / physiology
  • Protein Structure, Tertiary
  • RNA-Binding Proteins*
  • Trinucleotide Repeats


  • FMR1 protein, human
  • Fmr1 protein, mouse
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • Fragile X Mental Retardation Protein