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PMID: 19556021 Published · ppublish English Journal Article Review

The genetic landscape of intellectual disability arising from chromosome X.

Trends in genetics : TIG ·Vol. 25 ·No. 7 ·2009-07-00 ·Pages 308-16

Gécz J, Shoubridge C, Corbett M

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, 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.

MeSH Terms
Chromosomes, Human, X/genetics Female Genetic Variation Humans Male Mental Retardation, X-Linked/genetics
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Gécz Jozef
Molecular Pathology, SA Pathology at Women's and Children's Hospital, North Adelaide, SA 5006, Australia.
Shoubridge Cheryl
Corbett Mark
Article Info
Journal
Trends in genetics : TIG
Abbr.
Trends Genet
ISSN
0168-9525
Published
2009-07-00
Epub
2009-00-24
Pages
308-16
Language
English
Region
England
NLM ID
8507085
Subset
IM
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