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December 8, 2025Blood

The somatic hotspot mutation of DDX41 (p.R525H) elicits dominant-negative effects upon non-truncating germline variants, explaining similar disease risk as truncating variants.

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Authors

ESEmily StepanchickYKYael Kusne

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Overview

Analysis shows dominant-negative effects of the p.R525H mutation in DDX41 variants, indicating altered disease risk in hematopoietic progenitors.

Key Points

  • Dominant-negative p.R525H mutation disrupts functionality of non-truncating DDX41 variants.
  • Acute Myeloid Leukemia, along with Myelodysplastic Syndrome, is linked to germline DDX41 variants.
  • Utilizing genetic complementation, we explored the effects of non-truncating DDX41 variants on cell proliferation.
  • Findings highlight that specific DDX41 mutations may enhance disease risk via altered hematopoietic progenitor function.

Cite This Study

Stepanchick et al. (2025) studied this question.

synapsesocial.com/papers/69362f444fa91c937236d595https://doi.org/10.1182/blood-2025-3221
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology2025 · 1 citations
  2. 2The somatic DDX41 hot spot mutation (p.R525H) causes skewed differentiation into plasmacytoid dendritic cells in human iPSC and leukemia models2025
  3. 3Granulocyte maturation and splicing defects in DDX41-mutated leukemia2025
  4. 4Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits2025
  5. 5Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders2025