Fragile X syndrome

Curr Opin Neurol. 1997 Apr;10(2):142-7. doi: 10.1097/00019052-199704000-00012.

Abstract

The fragile X syndrome is characterized by mental handicap, facial dysmorphism and expression of a fragile site at Xq27.3. An expansion of a CGG repeat in the 5' end of the fragile X mental retardation 1 (FMR1) gene results in the absence of the encoded fragile X mental retardation protein, known to play an important role in RNA processing and probably the developmental maturation of brain neurons.

Publication types

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

MeSH terms

  • Animals
  • Fragile X Messenger Ribonucleoprotein 1
  • Fragile X Syndrome / diagnosis
  • Fragile X Syndrome / genetics*
  • Fragile X Syndrome / psychology
  • Gene Expression / physiology
  • Humans
  • Mice
  • Models, Genetic
  • Nerve Tissue Proteins / genetics
  • RNA Processing, Post-Transcriptional / genetics
  • RNA-Binding Proteins*
  • Trinucleotide Repeats / genetics
  • X Chromosome

Substances

  • Fragile X Messenger Ribonucleoprotein 1
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • FMR1 protein, human
  • Fmr1 protein, mouse