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dc.contributor.authorMyers, Bethan
dc.date.accessioned2022-09-09T12:42:00Z
dc.date.available2022-09-09T12:42:00Z
dc.date.issued2022-02
dc.identifier.citationAlmazni, 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/10.1080/09537104.2021.1887470en_US
dc.identifier.urihttp://hdl.handle.net/20.500.12904/15764
dc.description.abstractFamilial 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.
dc.description.urihttps://www.tandfonline.com/doi/full/10.1080/09537104.2021.1887470?cookieSet=1en_US
dc.language.isoenen_US
dc.subjectbleedingen_US
dc.subjectCNVen_US
dc.subjectNGSen_US
dc.subjectRUNX1en_US
dc.subjectplatelet disorderen_US
dc.subjectthrombocytopeniaen_US
dc.titleA novel RUNX1 exon 3 - 7 deletion causing a familial platelet disorderen_US
dc.typeArticleen_US
rioxxterms.funderDefault funderen_US
rioxxterms.identifier.projectDefault projecten_US
rioxxterms.versionNAen_US
rioxxterms.versionofrecord10.1080/09537104.2021.1887470en_US
rioxxterms.typeJournal Article/Reviewen_US
refterms.panelUnspecifieden_US
html.description.abstractFamilial 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.en_US
rioxxterms.funder.project94a427429a5bcfef7dd04c33360d80cden_US


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