Inherited mutations of the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATR-X) syndrome.
Acquired mutations in ATRX have been reported in a number of human cancers including pancreatic neuroendocrine tumours,[REF] gliomas,[REF] astrocytomas,[REF] osteosarcomas,[REF] and malignant pheochromocytomas [REF].