A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene-Reference-Cited by-同舟云学术

A new form of macrothrombocytopenia induced by a germ-line mutation in the PRKACG gene

Published:2014-10-16 Issue:16 Volume:124 Page:2554-2563
ISSN:0006-4971
Container-title:Blood
language:en
Short-container-title:

Author:

Manchev Vladimir T.¹²³,Hilpert Morgane¹²³,Berrou Eliane⁴,Elaib Ziane⁴,Aouba Achille⁵,Boukour Siham¹³⁴,Souquere Sylvie³⁶,Pierron Gerard³⁶,Rameau Philippe³⁷,Andrews Robert⁸,Lanza François⁹,Bobe Regis⁴,Vainchenker William¹³,Rosa Jean-Philippe⁴,Bryckaert Marijke⁴,Debili Najet¹³,Favier Remi¹¹⁰,Raslova Hana¹³

Affiliation:

1. Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche 1009, Université Paris-Sud 11, Equipe Labellisée Ligue Contre le Cancer, Villejuif, France;

2. University Paris Diderot, Paris, France;

3. Gustave Roussy, Villejuif, France;

4. Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;

5. Assistance Publique-Hôpitaux de Paris, Médecine Interne-Immunologie Clinique, Antoine Beclere Hospital, Clamart, France;

6. Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;

7. Plate Forme Imagerie et Cytomètrie de Flux, Integrated Research Cancer Institute in Villejuif, Villejuif, France;

8. Australian Centre for Blood Diseases, Monash University, Melbourne, Australia;

9. Institut National de la Santé et de la Recherche Médicale, UMR S949, Université de Strasbourg, Etablissement Français du Sang Alsace, Strasbourg Cedex, France; and

10. Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, French Reference Center for Platelet Disorders, Haematological Laboratory, Paris, France

Abstract

Key Points We identify a new type of autosomal recessive macrothrombocytopenia associated with a mutation in PRKACG, coding the PKA catalytic subunit. The homozygous PRKACG mutation leads to a deep defect in proplatelet formation that was restored by the overexpression of wild-type PRKACG.

Publisher

American Society of Hematology

Subject

Cell Biology,Hematology,Immunology,Biochemistry

Link

http://ashpublications.org/blood/article-pdf/124/16/2554/1380919/2554.pdf

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