Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Copyright policy )Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms
Most cases of adult myeloid neoplasms are routinely assumed to be sporadic. Here, we describe an adult familial acute myeloid leukemia (AML) syndrome caused by germline mutations in the DEAD/H-box helicase gene DDX41. DDX41 was also found to be affected by somatic mutations in sporadic cases of myeloid neoplasms as well as in a biallelic fashion in 50% of patients with germline DDX41 mutations. Moreover, corresponding deletions on 5q35.3 present in 6% of cases led to haploinsufficient DDX41 expression. DDX41 lesions caused altered pre-mRNA splicing and RNA processing. DDX41 is exemplary of other RNA helicase genes also affected by somatic mutations, suggesting that they constitute a family of tumor suppressor genes.
- University of Chicago United States
- University of Tokyo Japan
- University Hospital in Halle Germany
- Uniformed Services University of the Health Sciences United States
- Cleveland Clinic United States
Aged, 80 and over, Male, Cancer Research, Sequence Homology, Amino Acid, RNA Splicing, Molecular Sequence Data, Cell Biology, Middle Aged, Pedigree, DEAD-box RNA Helicases, Leukemia, Myeloid, Acute, Oncology, Animals, Humans, Female, Amino Acid Sequence, Germ-Line Mutation, Aged
Aged, 80 and over, Male, Cancer Research, Sequence Homology, Amino Acid, RNA Splicing, Molecular Sequence Data, Cell Biology, Middle Aged, Pedigree, DEAD-box RNA Helicases, Leukemia, Myeloid, Acute, Oncology, Animals, Humans, Female, Amino Acid Sequence, Germ-Line Mutation, Aged
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