Publications by authors named "Ana Zamora-Canovas"
Article Synopsis
- Genetic diagnosis of inherited platelet disorders (IPDs) often relies on high-throughput sequencing (HTS), but this method can miss important genetic variations.
- This study evaluated nanopore long-read DNA sequencing as a more effective way to identify structural variants in patients previously diagnosed with Glanzmann thrombasthenia and Hermansky-Pudlak syndrome, where HTS had failed.
- Nanopore sequencing successfully uncovered complex genetic changes and allowed for detailed identification of variants, demonstrating its value as a complementary diagnostic tool for IPDs.
Article Synopsis
- Protein glycosylation, particularly sialylation, is essential for various biological processes, especially in normal blood cell production (hematopoiesis).
- The modification of proteins with carbohydrate residues helps regulate platelet production and clearance, influencing their lifespan in the bloodstream (8-11 days).
- Recent discoveries have identified numerous genetic disorders linked to glycosylation defects, resulting in symptoms like severe thrombocytopenia and bleeding complications.
Background: Germline mutations in RUNX1 can cause a familial platelet disorder that may lead to acute myeloid leukemia, an autosomal dominant disorder characterized by moderate thrombocytopenia, platelet dysfunction, and a high risk of developing acute myeloid leukemia or myelodysplastic syndrome. Discerning the pathogenicity of novel RUNX1 variants is critical for patient management.
Objectives: To extend the characterization of RUNX1 variants and evaluate their effects by transcriptome analysis.
Src-related thrombocytopenia (SRC-RT) is a rare autosomal dominant, inherited platelet disorder resulting from the p.E527K heterozygous germline gain-of-function variant of Src. To date, genetic diagnosis of the disease has only been reported in 7 patients from 3 unrelated families.
View Article and Find Full Text PDFβ1-Tubulin plays a major role in proplatelet formation and platelet shape maintenance, and pathogenic variants in TUBB1 lead to thrombocytopenia and platelet anisocytosis (TUBB1-RT). To date, the reported number of pedigrees with TUBB1-RT and of rare TUBB1 variants with experimental demonstration of pathogenicity is limited. Here, we report 9 unrelated families presenting with thrombocytopenia carrying 6 β1-tubulin variants, p.
View Article and Find Full Text PDFPlatelets play a major role in hemostasis as ppwell as in many other physiological and pathological processes. Accordingly, production of about 10 platelet per day as well as appropriate survival and functions are life essential events. Inherited platelet disorders (IPDs), affecting either platelet count or platelet functions, comprise a heterogenous group of about sixty rare diseases caused by molecular anomalies in many culprit genes.
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