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| Status |
Public on Apr 01, 2015 |
| Title |
Inherited and somatic defects in DDX41 in myeloid neoplasms |
| Organism |
Homo sapiens |
| Experiment type |
Genome variation profiling by SNP array
SNP genotyping by SNP array
|
| Summary |
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 lead 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.
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| Overall design |
Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved diagnostic bone marrow or peripheral blood samples.
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| Contributor(s) |
Przychodzen B, Polprasert C |
| Citation(s) |
25920683 |
| Submission date |
Mar 09, 2015 |
| Last update date |
Jan 10, 2022 |
| Contact name |
Bartlomiej Przychodzen |
| E-mail(s) |
przychb@ccf.org
|
| Organization name |
Cleveland Clinic
|
| Department |
THOR
|
| Street address |
9600 Euclid Avenue
|
| City |
Cleveland |
| State/province |
Ohio |
| ZIP/Postal code |
44195 |
| Country |
USA |
| |
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| Platforms (2) |
| GPL3718 |
[Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array |
| GPL6801 |
[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array |
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| Samples (35)
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| Relations |
| BioProject |
PRJNA277702 |
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