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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">A new form of macrothrombocytopenia induced by a germ-line mutation in the <italic>PRKACG</italic> gene</title><author><name sortKey="Manchev, Vladimir T" sort="Manchev, Vladimir T" uniqKey="Manchev V" first="Vladimir T." last="Manchev">Vladimir T. Manchev</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">University Paris Diderot, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Hilpert, Morgane" sort="Hilpert, Morgane" uniqKey="Hilpert M" first="Morgane" last="Hilpert">Morgane Hilpert</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">University Paris Diderot, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Berrou, Eliane" sort="Berrou, Eliane" uniqKey="Berrou E" first="Eliane" last="Berrou">Eliane Berrou</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Elaib, Ziane" sort="Elaib, Ziane" uniqKey="Elaib Z" first="Ziane" last="Elaib">Ziane Elaib</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Aouba, Achille" sort="Aouba, Achille" uniqKey="Aouba A" first="Achille" last="Aouba">Achille Aouba</name><affiliation><nlm:aff id="aff5">Assistance Publique-Hôpitaux de Paris, Médecine Interne-Immunologie Clinique, Antoine Beclere Hospital, Clamart, France;</nlm:aff></affiliation></author><author><name sortKey="Boukour, Siham" sort="Boukour, Siham" uniqKey="Boukour S" first="Siham" last="Boukour">Siham Boukour</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Souquere, Sylvie" sort="Souquere, Sylvie" uniqKey="Souquere S" first="Sylvie" last="Souquere">Sylvie Souquere</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Pierron, Gerard" sort="Pierron, Gerard" uniqKey="Pierron G" first="Gerard" last="Pierron">Gerard Pierron</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Rameau, Philippe" sort="Rameau, Philippe" uniqKey="Rameau P" first="Philippe" last="Rameau">Philippe Rameau</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Plate Forme Imagerie et Cytomètrie de Flux, Integrated Research Cancer Institute in Villejuif, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Andrews, Robert" sort="Andrews, Robert" uniqKey="Andrews R" first="Robert" last="Andrews">Robert Andrews</name><affiliation><nlm:aff id="aff8">Australian Centre for Blood Diseases, Monash University, Melbourne, Australia;</nlm:aff></affiliation></author><author><name sortKey="Lanza, Francois" sort="Lanza, Francois" uniqKey="Lanza F" first="François" last="Lanza">François Lanza</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Institut National de la Santé et de la Recherche Médicale, UMR S949, Université de Strasbourg, Etablissement Français du Sang Alsace, Strasbourg Cedex, France</nlm:aff></affiliation></author><author><name sortKey="Bobe, Regis" sort="Bobe, Regis" uniqKey="Bobe R" first="Regis" last="Bobe">Regis Bobe</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Vainchenker, William" sort="Vainchenker, William" uniqKey="Vainchenker W" first="William" last="Vainchenker">William Vainchenker</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Rosa, Jean Philippe" sort="Rosa, Jean Philippe" uniqKey="Rosa J" first="Jean-Philippe" last="Rosa">Jean-Philippe Rosa</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Bryckaert, Marijke" sort="Bryckaert, Marijke" uniqKey="Bryckaert M" first="Marijke" last="Bryckaert">Marijke Bryckaert</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Debili, Najet" sort="Debili, Najet" uniqKey="Debili N" first="Najet" last="Debili">Najet Debili</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Remi" last="Favier">Remi Favier</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, French Reference Center for Platelet Disorders, Haematological Laboratory, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Raslova, Hana" sort="Raslova, Hana" uniqKey="Raslova H" first="Hana" last="Raslova">Hana Raslova</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">25061177</idno><idno type="pmc">4199957</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4199957</idno><idno type="RBID">PMC:4199957</idno><idno type="doi">10.1182/blood-2014-01-551820</idno><date when="2014">2014</date><idno type="wicri:Area/Pmc/Corpus">001804</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001804</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">A new form of macrothrombocytopenia induced by a germ-line mutation in the <italic>PRKACG</italic> gene</title><author><name sortKey="Manchev, Vladimir T" sort="Manchev, Vladimir T" uniqKey="Manchev V" first="Vladimir T." last="Manchev">Vladimir T. Manchev</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">University Paris Diderot, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Hilpert, Morgane" sort="Hilpert, Morgane" uniqKey="Hilpert M" first="Morgane" last="Hilpert">Morgane Hilpert</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff2">University Paris Diderot, Paris, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Berrou, Eliane" sort="Berrou, Eliane" uniqKey="Berrou E" first="Eliane" last="Berrou">Eliane Berrou</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Elaib, Ziane" sort="Elaib, Ziane" uniqKey="Elaib Z" first="Ziane" last="Elaib">Ziane Elaib</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Aouba, Achille" sort="Aouba, Achille" uniqKey="Aouba A" first="Achille" last="Aouba">Achille Aouba</name><affiliation><nlm:aff id="aff5">Assistance Publique-Hôpitaux de Paris, Médecine Interne-Immunologie Clinique, Antoine Beclere Hospital, Clamart, France;</nlm:aff></affiliation></author><author><name sortKey="Boukour, Siham" sort="Boukour, Siham" uniqKey="Boukour S" first="Siham" last="Boukour">Siham Boukour</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Souquere, Sylvie" sort="Souquere, Sylvie" uniqKey="Souquere S" first="Sylvie" last="Souquere">Sylvie Souquere</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Pierron, Gerard" sort="Pierron, Gerard" uniqKey="Pierron G" first="Gerard" last="Pierron">Gerard Pierron</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff6">Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Rameau, Philippe" sort="Rameau, Philippe" uniqKey="Rameau P" first="Philippe" last="Rameau">Philippe Rameau</name><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation><affiliation><nlm:aff id="aff7">Plate Forme Imagerie et Cytomètrie de Flux, Integrated Research Cancer Institute in Villejuif, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Andrews, Robert" sort="Andrews, Robert" uniqKey="Andrews R" first="Robert" last="Andrews">Robert Andrews</name><affiliation><nlm:aff id="aff8">Australian Centre for Blood Diseases, Monash University, Melbourne, Australia;</nlm:aff></affiliation></author><author><name sortKey="Lanza, Francois" sort="Lanza, Francois" uniqKey="Lanza F" first="François" last="Lanza">François Lanza</name><affiliation><nlm:aff wicri:cut="; and" id="aff9">Institut National de la Santé et de la Recherche Médicale, UMR S949, Université de Strasbourg, Etablissement Français du Sang Alsace, Strasbourg Cedex, France</nlm:aff></affiliation></author><author><name sortKey="Bobe, Regis" sort="Bobe, Regis" uniqKey="Bobe R" first="Regis" last="Bobe">Regis Bobe</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Vainchenker, William" sort="Vainchenker, William" uniqKey="Vainchenker W" first="William" last="Vainchenker">William Vainchenker</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Rosa, Jean Philippe" sort="Rosa, Jean Philippe" uniqKey="Rosa J" first="Jean-Philippe" last="Rosa">Jean-Philippe Rosa</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Bryckaert, Marijke" sort="Bryckaert, Marijke" uniqKey="Bryckaert M" first="Marijke" last="Bryckaert">Marijke Bryckaert</name><affiliation><nlm:aff id="aff4">Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</nlm:aff></affiliation></author><author><name sortKey="Debili, Najet" sort="Debili, Najet" uniqKey="Debili N" first="Najet" last="Debili">Najet Debili</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Remi" last="Favier">Remi Favier</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff10">Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, French Reference Center for Platelet Disorders, Haematological Laboratory, Paris, France</nlm:aff></affiliation></author><author><name sortKey="Raslova, Hana" sort="Raslova, Hana" uniqKey="Raslova H" first="Hana" last="Raslova">Hana Raslova</name><affiliation><nlm:aff id="aff1">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;</nlm:aff></affiliation><affiliation><nlm:aff id="aff3">Gustave Roussy, Villejuif, France;</nlm:aff></affiliation></author></analytic><series><title level="j">Blood</title><idno type="ISSN">0006-4971</idno><idno type="eISSN">1528-0020</idno><imprint><date when="2014">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><title>Key Points</title><p><list list-type="bullet"><list-item><p>We identify a new type of autosomal recessive macrothrombocytopenia associated with a mutation in PRKACG, coding the PKA catalytic subunit.</p></list-item><list-item><p>The homozygous PRKACG mutation leads to a deep defect in proplatelet formation that was restored by the overexpression of wild-type PRKACG.</p></list-item></list></p></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Blood</journal-id><journal-id journal-id-type="iso-abbrev">Blood</journal-id><journal-id journal-id-type="hwp">bloodjournal</journal-id><journal-id journal-id-type="pmc">blood</journal-id><journal-id journal-id-type="publisher-id">Blood</journal-id><journal-title-group><journal-title>Blood</journal-title></journal-title-group><issn pub-type="ppub">0006-4971</issn><issn pub-type="epub">1528-0020</issn><publisher><publisher-name>American Society of Hematology</publisher-name><publisher-loc>Washington, DC</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">25061177</article-id><article-id pub-id-type="pmc">4199957</article-id><article-id pub-id-type="publisher-id">2014/551820</article-id><article-id pub-id-type="doi">10.1182/blood-2014-01-551820</article-id><article-categories><subj-group subj-group-type="hwp-journal-coll"><subject>29</subject><subject>35</subject><subject>100</subject><subject>101</subject></subj-group><subj-group subj-group-type="heading"><subject>Platelets and Thrombopoiesis</subject></subj-group></article-categories><title-group><article-title>A new form of macrothrombocytopenia induced by a germ-line mutation in the <italic>PRKACG</italic> gene</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Manchev</surname><given-names>Vladimir T.</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Hilpert</surname><given-names>Morgane</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Berrou</surname><given-names>Eliane</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Elaib</surname><given-names>Ziane</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Aouba</surname><given-names>Achille</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Boukour</surname><given-names>Siham</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Souquere</surname><given-names>Sylvie</given-names></name><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Pierron</surname><given-names>Gerard</given-names></name><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Rameau</surname><given-names>Philippe</given-names></name><xref ref-type="aff" rid="aff3">3</xref><xref ref-type="aff" rid="aff7">7</xref></contrib><contrib contrib-type="author"><name><surname>Andrews</surname><given-names>Robert</given-names></name><xref ref-type="aff" rid="aff8">8</xref></contrib><contrib contrib-type="author"><name><surname>Lanza</surname><given-names>François</given-names></name><xref ref-type="aff" rid="aff9">9</xref></contrib><contrib contrib-type="author"><name><surname>Bobe</surname><given-names>Regis</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Vainchenker</surname><given-names>William</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Rosa</surname><given-names>Jean-Philippe</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Bryckaert</surname><given-names>Marijke</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Debili</surname><given-names>Najet</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Favier</surname><given-names>Remi</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff10">10</xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Raslova</surname><given-names>Hana</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff3">3</xref></contrib><aff id="aff1"><label>1</label>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;</aff><aff id="aff2"><label>2</label>University Paris Diderot, Paris, France;</aff><aff id="aff3"><label>3</label>Gustave Roussy, Villejuif, France;</aff><aff id="aff4"><label>4</label>Institut National de la Santé et de la Recherche Médicale, Unité Mixte de Recherche_S 770, Université Paris-Sud 11, Le Kremlin Bicêtre, France;</aff><aff id="aff5"><label>5</label>Assistance Publique-Hôpitaux de Paris, Médecine Interne-Immunologie Clinique, Antoine Beclere Hospital, Clamart, France;</aff><aff id="aff6"><label>6</label>Centre National de la Recherche Scientifique, Unité Mixte de Recherche 8122, Université Paris-Sud 11, Villejuif, France;</aff><aff id="aff7"><label>7</label>Plate Forme Imagerie et Cytomètrie de Flux, Integrated Research Cancer Institute in Villejuif, Villejuif, France;</aff><aff id="aff8"><label>8</label>Australian Centre for Blood Diseases, Monash University, Melbourne, Australia;</aff><aff id="aff9"><label>9</label>Institut National de la Santé et de la Recherche Médicale, UMR S949, Université de Strasbourg, Etablissement Français du Sang Alsace, Strasbourg Cedex, France; and</aff><aff id="aff10"><label>10</label>Assistance Publique-Hôpitaux de Paris, Armand Trousseau Children Hospital, French Reference Center for Platelet Disorders, Haematological Laboratory, Paris, France</aff></contrib-group><author-notes><fn fn-type="equal"><p>V.T.M. and M.H. contributed equally to this work.</p></fn><fn fn-type="equal"><p>R.F. and H.R. contributed equally to this work.</p></fn></author-notes><pub-date pub-type="ppub"><day>16</day><month>10</month><year>2014</year></pub-date><pub-date pub-type="epreprint"><day>24</day><month>7</month><year>2014</year></pub-date><pub-date pub-type="pmc-release"><day>16</day><month>10</month><year>2014</year></pub-date><pmc-comment> PMC Release delay is 0 months and 0 days and was based on the
<volume>124</volume><issue>16</issue><fpage>2554</fpage><lpage>2563</lpage><history><date date-type="received"><day>27</day><month>1</month><year>2014</year></date><date date-type="accepted"><day>09</day><month>7</month><year>2014</year></date></history><permissions><copyright-statement>© 2014 by The American Society of Hematology</copyright-statement><copyright-year>2014</copyright-year></permissions><self-uri xlink:title="pdf" xlink:type="simple" xlink:href="2554.pdf"></self-uri><related-article id="d35e311" related-article-type="article-reference" ext-link-type="doi" xlink:href="10.1182/blood-2014-08-592329"></related-article><abstract abstract-type="executive-summary"><title>Key Points</title><p><list list-type="bullet"><list-item><p>We identify a new type of autosomal recessive macrothrombocytopenia associated with a mutation in PRKACG, coding the PKA catalytic subunit.</p></list-item><list-item><p>The homozygous PRKACG mutation leads to a deep defect in proplatelet formation that was restored by the overexpression of wild-type PRKACG.</p></list-item></list></p></abstract><abstract><p>Macrothrombocytopenias are the most important subgroup of inherited thrombocytopenias. This subgroup is particularly heterogeneous because the affected genes are involved in various functions such as cell signaling, cytoskeleton organization, and gene expression. Herein we describe the clinical and hematological features of a consanguineous family with a severe autosomal recessive macrothrombocytopenia associated with a thrombocytopathy inducing a bleeding tendency in the homozygous mutated patients. Platelet activation and cytoskeleton reorganization were impaired in these homozygous patients. Exome sequencing identified a c.222C>G mutation (missense p.74Ile>Met) in <italic>PRKACG,</italic> a gene encoding the γ-catalytic subunit of the cyclic adenosine monophosphate-dependent protein kinase, the mutated allele cosegregating with the macrothrombocytopenia. We demonstrate that the p.74Ile>Met PRKACG mutation is associated with a marked defect in proplatelet formation and a low level in filamin A in megakaryocytes (MKs). The defect in proplatelet formation was rescued in vitro by lentiviral vector-mediated overexpression of wild-type PRKACG in patient MKs. We thus conclude that PRKACG is a new central actor in platelet biogenesis and a new gene involved in inherited thrombocytopenia with giant platelets associated with a thrombocytopathy.</p></abstract><counts><page-count count="10"></page-count></counts><custom-meta-group><custom-meta><meta-name>access</meta-name><meta-value>free</meta-value></custom-meta></custom-meta-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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