Show Summary Details
Page of

ATRX, X-Linked α‎-Thalassemia Mental Retardation 

ATRX, X-Linked α‎-Thalassemia Mental Retardation
Chapter:
ATRX, X-Linked α‎-Thalassemia Mental Retardation
Author(s):

Richard J. Gibbons

, Takahito Wada

, and Christopher A. Fisher

DOI:
10.1093/med/9780199934522.003.0142
Page of

PRINTED FROM OXFORD MEDICINE ONLINE (www.oxfordmedicine.com). © Oxford University Press, 2021. All Rights Reserved. Under the terms of the licence agreement, an individual user may print out a PDF of a single chapter of a title in Oxford Medicine Online for personal use (for details see Privacy Policy and Legal Notice).

date: 07 March 2021

This chapter describes the ATRX gene and the two rare syndromes, both associated with α‎-thalassemia, which arise when the gene is mutated either in the germline or somatically. In each case the presence of α‎-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. ATRX is a chromatin remodelling factor which appears to play a role in the replication of tandem repetitive DNA. The consequences of mutations in this factor depend on the context of these repeats and can lead to a wide variety of biological outcomes including perturbed gene expression, defects in meiosis and mitosis and abnormal telomere maintenance.

Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.

Please subscribe or login to access full text content.

If you have purchased a print title that contains an access token, please see the token for information about how to register your code.

For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.