Metabolomics,Unknown,Transcriptomics,Genomics,Proteomics

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Inherited and somatic defects in DDX41 in myeloid neoplasms


ABSTRACT: 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. Affymetrix SNP arrays were performed according to the manufacturer's directions on DNA extracted from cryopreserved diagnostic bone marrow or peripheral blood samples.

ORGANISM(S): Homo sapiens

SUBMITTER: Bartlomiej Przychodzen 

PROVIDER: E-GEOD-66668 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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