ATRX gene mutation [Neurosurgery Wiki]

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====== ATRX gene mutation ======

[[ATRX]] [[gene mutation]]s are strongly coupled to [[IDH]] & [[TP53 mutation]]s, and occur in a number of human [[cancer]]s (in the CNS: in secondary [[Glioblastoma]] and its precursors, grade II & grade III [[glioma]]s). Uncommon in [[oligodendroglioma]]s and secondary Glioblastomas.

Testing for these is performed by [[polymerase chain reaction]] ([[PCR]]).

In general, ATRX & TP53 mutations are mutually exclusive of [[1p/19q co-deletion]], and as such may be used as confirmatory markers to distinguish astrocytomas from oligodendrogliomas.

Indications: [[ATRX]] is a confirmatory test along with IDH1 mutation. [[ATRX]] & [[TP53]] can be detected by immunohistochemical (IHC) stains or by [[Fluorescence in situ hybridization]] ([[FISH]]) and may be done in some hospitals or may be sent out to specialty labs; results typically take ≈ 2–3 days. The cost of IHC is on the order of $100–150 U.S., FISH is about $200–250 U.S.

Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene.



===== Clinical significance =====


Mutations of the ATRX gene are associated with an X-linked mental retardation (XLMR) syndrome most often accompanied by alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. Female carriers may demonstrate skewed X chromosome inactivation.

Interactions

ATRX has been shown to interact with EZH2.