Fragile X syndrome

Am J Med Genet C Semin Med Genet. 2005 Aug 15;137C(1):32-7. doi: 10.1002/ajmg.c.30062.


Fragile X syndrome, the most common genetic disorder associated with mental retardation is caused by an expansion of the unstable CGG repeat within the FMR1 gene. Although overgrowth is not the main hallmark of this condition, the fragile X syndrome is usually included in the differential diagnosis of children with mental retardation and excess growth. This review highlights the most recent advances in the field of fragile X research.

Publication types

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

MeSH terms

  • Ataxia / complications
  • Ataxia / genetics
  • Female
  • Fragile X Mental Retardation Protein
  • Fragile X Syndrome / complications
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / physiopathology*
  • Fragile X Syndrome / therapy
  • Humans
  • Nerve Tissue Proteins / chemistry
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Primary Ovarian Insufficiency / complications
  • Primary Ovarian Insufficiency / genetics
  • Protein Binding
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / genetics
  • RNA-Binding Proteins / metabolism


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