Medical Knowledge Cockpit leukemia, megakaryoblastic, with or without down syndrome

GATA1

• Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1
• Analysis of disease-causing GATA1 mutations in murine gene complementation systems
• Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome
• Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21
• Mutations in GATA1 in both transient myeloproliferative disorder and acute megakaryoblastic leukemia of Down syndrome

• Incidence and clinical implications of GATA1 mutations in newborns with Down syndrome

GATA1

Somatic tumors

megakaryoblastic leukaemia of Downs syndrome

Tumor types germline

Cancer Syndrom

Translocation partner

Name

GATA binding protein 1 (globin transcription factor 1)

Chromosome banding

Xp11.23

Cancer molecular gen.

Dom

Mutation type

Mis, F

Other syndrome disease