The genetic landscape of intellectual disability arising from chromosome X

Trends Genet. 2009 Jul;25(7):308-16. doi: 10.1016/j.tig.2009.05.002. Epub 2009 Jun 24.


X-linked mental retardation (XLMR) or intellectual disability (ID) is a common, clinically complex and genetically heterogeneous disease arising from many mutations along the X chromosome. It affects between 1/600-1/1000 males and a substantial number of females. Research during the past decade has identified >90 different XLMR genes, affecting a wide range of cellular processes. Many more genes remain uncharacterized, especially for the non-syndromic XLMR forms. Currently, approximately 11% of X-chromosome genes are implicated in XLMR; however, apart from a few notable exceptions, most contribute individually to <0.1% of the total landscape, which arguably remains only about half complete. There remain many hills to climb and valleys to cross before the ID landscape is fully triangulated.

Publication types

  • Review

MeSH terms

  • Chromosomes, Human, X / genetics*
  • Female
  • Genetic Variation*
  • Humans
  • Male
  • Mental Retardation, X-Linked / genetics*