Medical Knowledge Cockpit alpha-thalassemia/mental retardation syndrome

ATRX

• Histone H3.3 is required for endogenous retroviral element silencing in embryonic stem cells
• X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis
• Altered telomeres in tumors with ATRX and DAXX mutations
• Whole-exome sequencing identifies ATRX mutation as a key molecular determinant in lower-grade glioma

ATRX

Somatic tumors

pancreatic neuroendocrine tumours, paediatric GBM

Tumor types germline

Cancer Syndrom

Translocation partner

Name

alpha thalassemia/mental retardation syndrome X-linked

Chromosome banding

Xq21.1

Cancer molecular gen.

Rec

Mutation type

Mis, F, N

Other syndrome disease

ATR-X (alpha thalassemia/mental retardation) syndrome