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December 8, 2025BloodOpen Access

Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits

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Authors

CBCarlos Bravo‐PérezZBZachary BradyKLKartik Lakhotiya

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Overview

Observational analysis reveals distinct mutational configurations in DDX41 mutants, indicating potential insights into molecular interactions related to bone marrow failure.

Key Points

  • Findings show distinct clusters of DDX41 mutations, where the majority are single germline hits associated with myeloid neoplasia.
  • Among 154 DDX41 mutant patients, 61% had single germline mutations, with prevalent cases observed in AML and MDS.
  • Clustering was applied to uncover 8 molecular configurations, leading to insights on somatic contributors like DNMT3A and splicing factor mutants.
  • These findings highlight the complexity of DDX41 mutations, supporting potential pathways for managing bone marrow failure and related hematologic diseases.

Cite This Study

Bravo‐Pérez et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e447https://doi.org/10.1182/blood-2025-1443
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Also Consider

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

  1. 1Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders2025
  2. 2Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients2025 · 1 citations
  3. 3DDX41-related myeloid neoplasms: Insights and treatment landscape in 250 patients managed at a large tertiary centre2025
  4. 4DDX41-R525H mutation promotes dysplastic hematopoiesis via aberrant splicing of key regulators of HSC biology2025 · 1 citations
  5. 5Granulocyte maturation and splicing defects in DDX41-mutated leukemia2025