ATRX, X-Linked α-Thalassemia Mental Retardation
- DOI:
- 10.1093/med/9780199934522.003.0142
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.
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