The genetic landscape of intellectual disability arising from chromosome X

Jozef Gécz, Cheryl Shoubridge, Mark Corbett

Research output: Contribution to journalReview article

151 Citations (Scopus)

Abstract

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, ∼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.

Original languageEnglish
Pages (from-to)308-316
Number of pages9
JournalTrends in Genetics
Volume25
Issue number7
DOIs
Publication statusPublished - 1 Jul 2009
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

Cite this