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Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders

Overview of attention for article published in Orphanet Journal of Rare Diseases, April 2016
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Title
Haematological spectrum and genotype-phenotype correlations in nine unrelated families with RUNX1 mutations from the French network on inherited platelet disorders
Published in
Orphanet Journal of Rare Diseases, April 2016
DOI 10.1186/s13023-016-0432-0
Pubmed ID
Authors

Veronique Latger-Cannard, Christophe Philippe, Alexandre Bouquet, Veronique Baccini, Marie-Christine Alessi, Annick Ankri, Anne Bauters, Sophie Bayart, Pascale Cornillet-Lefebvre, Sylvie Daliphard, Marie-Joelle Mozziconacci, Aline Renneville, Paola Ballerini, Guy Leverger, Hagay Sobol, Philippe Jonveaux, Claude Preudhomme, Paquita Nurden, Thomas Lecompte, Remi Favier

Abstract

Less than 50 patients with FPD/AML (OMIM 601309) have been reported as of today and there may an underestimation. The purpose of this study was to describe the natural history, the haematological features and the genotype-phenotype correlations of this entity in order to, first, screen it better and earlier, before leukaemia occurrence and secondly to optimize appropriate monitoring and treatment, in particular when familial stem cell transplantation is considered. We have investigated 41 carriers of RUNX1 alteration belonging to nine unrelated French families with FPD/AML and two syndromic patients, registered in the French network on rare platelet disorders from 2005 to 2015. Five missense, one non-sense, three frameshift mutations and two large deletions involving several genes including RUNX1 were evidenced. The history of familial leukaemia was suggestive of FPD/AML in seven pedigrees, whereas an autosomal dominant pattern of lifelong thrombocytopenia was the clinical presentation of two. Additional syndromic features characterized two large sporadic deletions. Bleeding tendency was mild and thrombocytopenia moderate (>50 x10(9)/L), with normal platelet volume. A functional platelet defect consistent with a δ-granule release defect was found in ten patients regardless of the type of RUNX1 alteration. The incidence of haematological malignancies was higher when the mutated RUNX1 allele was likely to cause a dominant negative effect (19/34) in comparison with loss of function alleles (3/9). A normal platelet count does not rule out the diagnosis of FPD/AML, since the platelet count was found normal for three mutated subjects, a feature that has a direct impact in the search for a related donor in case of allogeneic haematopoietic stem cell transplantation. Platelet dysfunction suggestive of defective δ-granule release could be of values for the diagnosis of FPD/AML particularly when the clinical presentation is an autosomal dominant thrombocytopenia with normal platelet size in the absence of familial malignancies. The genotype-phenotype correlations might be helpful in genetic counselling and appropriate optimal therapeutic management.

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Mendeley readers

The data shown below were compiled from readership statistics for 32 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 32 100%

Demographic breakdown

Readers by professional status Count As %
Student > Ph. D. Student 7 22%
Student > Postgraduate 6 19%
Student > Master 6 19%
Researcher 3 9%
Student > Bachelor 2 6%
Other 4 13%
Unknown 4 13%
Readers by discipline Count As %
Biochemistry, Genetics and Molecular Biology 10 31%
Medicine and Dentistry 7 22%
Agricultural and Biological Sciences 5 16%
Computer Science 2 6%
Psychology 2 6%
Other 2 6%
Unknown 4 13%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 03 May 2016.
All research outputs
#5,510,631
of 7,644,999 outputs
Outputs from Orphanet Journal of Rare Diseases
#798
of 1,073 outputs
Outputs of similar age
#171,932
of 267,520 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#54
of 56 outputs
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