X-linked mental retardation

Nat Rev Genet. 2005 Jan;6(1):46-57. doi: 10.1038/nrg1501.


Genetic factors have an important role in the aetiology of mental retardation. However, their contribution is often underestimated because in developed countries, severely affected patients are mainly sporadic cases and familial cases are rare. X-chromosomal mental retardation is the exception to this rule, and this is one of the reasons why research into the genetic and molecular causes of mental retardation has focused almost entirely on the X-chromosome. Here, we review the remarkable recent progress in this field, its promise for understanding neural function, learning and memory, and the implications of this research for health care.

Publication types

  • Review

MeSH terms

  • Brain / physiology
  • Chromosome Aberrations
  • Chromosomes, Human, X
  • Cognition
  • Genes*
  • Humans
  • Mental Retardation, X-Linked / classification
  • Mental Retardation, X-Linked / diagnosis
  • Mental Retardation, X-Linked / genetics*
  • Mutation
  • Syndrome