Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1-Reference-Cited by-同舟云学术

Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1

Published:2015-10-22 Issue:17 Volume:126 Page:2027-2030
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Stevenson William S.¹²,Rabbolini David J.¹²,Beutler Lucinda¹²,Chen Qiang¹²,Gabrielli Sara¹²,Mackay Joel P.³,Brighton Timothy A.⁴,Ward Christopher M.¹²,Morel-Kopp Marie-Christine¹²^ORCID

Affiliation:

1. Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, Australia;

2. Northern Blood Research Centre, Kolling Institute of Medical Research,

3. School of Molecular Biosciences, The University of Sydney, Sydney, Australia; and

4. South Eastern Area Laboratory Services, Prince of Wales Hospital, Sydney, Australia

Abstract

Key Points The platelet defect associated with Paris-Trousseau thrombocytopenia and Jacobsen syndrome is caused by an abnormal transcription factor FLI1. FLI1 DNA–binding ETS domain mutations cause bleeding disorders with both autosomal dominant and recessive patterns of inheritance.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/126/17/2027/1389313/2027.pdf

Reference18 articles.

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3. FLI1 monoallelic expression combined with its hemizygous loss underlies Paris-Trousseau/Jacobsen thrombopenia.;Raslova;J Clin Invest,2004

4. ISTH/SSC bleeding assessment tool: a standardized questionnaire and a proposal for a new bleeding score for inherited bleeding disorders.;Rodeghiero;J Thromb Haemost,2010

5. Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.;Stockley;Blood,2013

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