ArticleResearch and practice in thrombosis and haemostasis2017
Phenotype analysis and clinical management in a large family with a novel truncating mutation in
Article in Research and practice in thrombosis and haemostasis, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 21 citations in OpenAlex.
- Utility of thromboelastography with platelet mapping for monitoring platelet transfusion in qualitative platelet disorders.Journal of thrombosis and haemostasis : JTH · 2024Article
- Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.Haematologica · 2021Review
- Profiling the Genetic and Molecular Characteristics of Glanzmann Thrombasthenia: Can It Guide Current and Future Therapies?Journal of blood medicine · 2021Review
- Platelet transfusion for patients with platelet dysfunction: effectiveness, mechanisms, and unanswered questions.Current opinion in hematology · 2020Review
- Severe Bleeding Diathesis in Siblings with Platelet Dysfunction due to a Novel NonsenseTH open : companion journal to thrombosis and haemostasis · 2020Article
- Subcellular localization of Rap1 GTPase activator CalDAG-GEFI is orchestrated by interaction of its atypical C1 domain with membrane phosphoinositides.Journal of thrombosis and haemostasis : JTH · 2020Article
- RasGRP2 Structure, Function and Genetic Variants in Platelet Pathophysiology.International journal of molecular sciences · 2020Review
- Impaired hemostatic activity of healthy transfused platelets in inherited and acquired platelet disorders: Mechanisms and implications.Science translational medicine · 2019Article
- Expanded repertoire ofBlood · 2017Article
- Phenotype analysis and clinical management in a large family with a novel truncating mutation inResearch and practice in thrombosis and haemostasis · 2017Article
Corrections and comments
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Authors and funding
10 authors at 7 institutions in 2 countries.
Funding
Abstract
backgroundGenetic variants in the
objectivesTo better understand the phenotypical and clinical profiles of patients with CalDAG-GEFI deficiency. PATIENTS: We report a five-generation family with a novel truncating CalDAG-GEFI mutation detailing clinical management and phenotypic variability.
resultsPatients IV.6 & IV.4 manifested with episodes of serious mucocutanous bleeding or bleeding after surgery not responding to platelet transfusion but responding well to recombinant Factor VIIa infusions. Their blood counts and coagulation parameters were normal but platelet aggregation to ADP and collagen was defective. Further work-up confirmed normal levels of αIIb and β3 in their platelets but decreased αIIbβ3 function. DNA analysis by whole exome sequencing within the BRIDGE-BPD consortium (Cambridge, UK), allowed us to highlight a homozygous c.1490delT predicted to give rise to a p.F497Sfs*22 truncating mutation near to the C-terminal domain of CalDAG-GEFI. Sanger sequencing confirmed that both patients were homozygous for the c.1490delT and 3 out of 4 close family members were heterozygous.
conclusionsA long-term prospective study is warranted for full clinical exploration of CalDAG-GEFI to understand the bleeding phenotyes and their management.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.