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    A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder

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    Author
    Myers, Bethan
    Keyword
    bleeding
    CNV
    NGS
    RUNX1
    platelet disorder
    thrombocytopenia
    Date
    2022-02
    
    Metadata
    Show full item record
    Publisher's URL
    https://www.tandfonline.com/doi/full/10.1080/09537104.2021.1887470?cookieSet=1
    Abstract
    Familial Platelet Disorder with associated Myeloid Malignancy (FPDMM) is a rare inherited disorder confirmed with the presence of a pathogenic germline RUNX1 variant and is thought to be heavily underdiagnosed. RUNX1 has also been found to be mutated in up to 10% of adult AML cases and other cell malignancies. We performed targeted next-generation sequencing and subsequent MLPA analysis in a kindred with multiple affected individuals with low platelet counts and a bleeding history. We detected a novel heterozygous exon 3-7 large deletion in the RUNX1 gene in all affected family members which is predicted to remove all of the Runt-homology DNA-binding domain and a portion of the Activation domain. Our results show that the combination of targeted NGS and MLPA analysis is an effective way to detect copy number variants (CNVs) which would be missed by conventional sequencing methods. This precise diagnosis offers the possibility of accurate counseling and clinical management in such patients who could go onto develop other cell malignancies.
    Citation
    Almazni, I., Chudakou, P., Dawson-Meadows, A., Downes, K., Freson, K., Mason, J., Page, P., Reay, K., Myers, B., Morgan, N. V., & UK GAPP Study Group (2022). A novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorder. Platelets, 33(2), 320–323. https://doi.org/10.1080/09537104.2021.1887470
    Type
    Article
    URI
    http://hdl.handle.net/20.500.12904/15764
    Collections
    Genetics
    Haematology

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