Publications by authors named "A Pecci"
Article Synopsis
- Correctly interpreting germline RUNX1 variants is crucial for diagnosing and managing FPD/AML (familial platelet disorder/acute myeloid leukemia).
- The study highlights two families with significant FPD/AML characteristics that have missense variants at a crucial residue (Gly168), which are often misclassified as variants of unknown significance (VUS).
- Evidence from computational analysis and observed platelet expression suggests these variants are likely pathogenic, indicating a need to revise RUNX1 classification guidelines to improve diagnostic accuracy.
Thrombocytopenia 4 (THC4) is an autosomal-dominant thrombocytopenia caused by mutations in CYCS, the gene encoding cytochrome c (CYCS), a small haeme protein essential for electron transport in mitochondria and cell apoptosis. THC4 is considered an extremely rare condition since only a few patients have been reported so far. These subjects presented mild thrombocytopenia and no or mild bleeding tendency.
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- ACTN1-related thrombocytopenia is caused by genetic mutations in the ACTN1 gene, leading to large platelets and mild bleeding issues.
- Two sisters with a specific homozygous variant showed moderate thrombocytopenia and significantly larger platelets than their heterozygous relatives, suggesting a stronger genetic impact on platelet size.
- The study also proposes a link between certain ACTN1 variants and heart valve defects, indicating that these genetic changes may affect both blood cell characteristics and cardiac health.
Hematopoietic stem and progenitor cells (HSPCs) continuously generate platelets throughout one's life. Inherited Platelet Disorders affect ≈ 3 million individuals worldwide and are characterized by defects in platelet formation or function. A critical challenge in the identification of these diseases lies in the absence of models that facilitate the study of hematopoiesis ex vivo.
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