P083: ASXL1 as a potential modifier of GATA2 mutational burden and disease severity
Abstract
The GATA2 gene (OMIM 137295) encodes a zinc finger transcription factor essential for hematopoietic stem cell maintenance and erythroid development. Variants in this gene are associated with autosomal dominant (AD) Emberger syndrome, immunodeficiency type 21 and predisposition to myeloid disorders such as myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Somatic ASXL1 (OMIM 612990) variants are commonly seen in myeloid malignancies. Interestingly, germline ASXL1 variants result in an autosomal dominant disorder, Bohring-Opitz syndrome, which predominantly presents with a neurodevelopmental phenotype and various birth defects.
Fields of Study & Subjects
Acute Myeloid Leukemia Research
Blood disorders and treatments
Immunodeficiency and Autoimmune Disorders
Publication details
- Journal / source
- Genetics in Medicine Open
- Volume
- 4
- Pages
- 103574–103574
- Publication date
- 1 January 2026
- Language
- EN