Medical Knowledge Cockpit mental retardation-hypotonic facies syndrome, x-linked

ATRX

• Cloning and expression of the murine homologue of a putative human X-linked nuclear protein gene closely linked to PGK1 in Xq13.3
• XNP mutation in a large family with Juberg-Marsidi syndrome
• Normalization and subtraction: two approaches to facilitate gene discovery
• ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome

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