Browse by author
Lookup NU author(s): Dr Jacqueline Stockley, Dr Katherine Talks
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
We analyzed candidate platelet function disorder genes in 13 index cases with a history of excessive bleeding in association with a significant reduction in dense granule secretion and impaired aggregation to a panel of platelet agonists. Five of the index cases also had mild thrombocytopenia. Heterozygous alterations in FLI1 and RUNX1, encoding Friend leukemia integration 1 and RUNT-related transcription factor 1, respectively, which have a fundamental role in megakaryocytopoeisis, were identified in 6 patients, 4 of whom had mild thrombocytopenia. Two FLI1 alterations predicting p.Arg337Trp and p.Tyr343Cys substitutions in the FLI1 DNA-binding domain abolished transcriptional activity of FLI1. A 4-bp deletion in FLI1, and 2 splicing alterations and a nonsense variation in RUNX1, which were predicted to cause haploinsufficiency of either FLI1 or RUNX1, were also identified. Our findings suggest that alterations in FLI1 and RUNX1 may be common in patients with platelet dense granule secretion defects and mild thrombocytopenia. © 2013 by The American Society of Hematology.
Author(s): Stockley J, Morgan NV, Bem D, Lowe GC, Lordkipanidze M, Dawood B, Simpson MA, Macfarlane K, Horner K, Leo VC, Talks K, Motwani J, Wilde JT, Collins PW, Makris M, Watson SP, Daly ME
Publication type: Article
Publication status: Published
Journal: Blood
Year: 2013
Volume: 122
Issue: 25
Pages: 4090-4093
Online publication date: 07/10/2013
ISSN (print): 0006-4971
ISSN (electronic): 1528-0020
URL: https://doi.org/10.1182/blood-2013-06-506873
DOI: 10.1182/blood-2013-06-506873
PubMed id: 24100448
Altmetrics provided by Altmetric
