Spectrum of the Mutations in Bernard–Soulier Syndrome
Identifieur interne : 003D18 ( Main/Curation ); précédent : 003D17; suivant : 003D19Spectrum of the Mutations in Bernard–Soulier Syndrome
Auteurs : Anna Savoia [Italie] ; Shinji Kunishima [Japon] ; Daniela De Rocco [Italie] ; Barbara Zieger [Allemagne] ; Margaret L. Rand [Canada] ; Nuria Pujol-Moix [Espagne] ; Umran Caliskan [Turquie] ; Huseyin Tokgoz [Turquie] ; Alessandro Pecci [Italie] ; Patrizia Noris [Italie] ; Alok Srivastava [Inde] ; Christopher Ward [Australie] ; Marie-Christine Morel-Kopp [Australie] ; Marie-Christine Alessi [France] ; Sylvia Bellucci [France] ; Philippe Beurrier [France] ; Emmanuel De Maistre [France] ; Rémi Favier [France] ; Nathalie Hézard [France] ; Marie-Françoise Hurtaud-Roux [France] ; Véronique Latger-Cannard [France] ; Cécile Lavenu-Bombled [France] ; Valérie Proulle [France] ; Sandrine Meunier [France] ; Claude Négrier [France] ; Alan Nurden [France] ; Hanitra Randrianaivo [France] ; Fabrizio Fabris [Italie] ; Helen Platokouki [Grèce] ; Nurit Rosenberg [Israël] ; Basma Hadjkacem [Tunisie] ; Paula G. Heller [Argentine] ; Mehran Karimi [Iran] ; Carlo L. Balduini [Italie] ; Annalisa Pastore [Royaume-Uni] ; Francois Lanza [France]Source :
- Human Mutation [ 1059-7794 ] ; 2014-09.
Abstract
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb‐IX‐V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.
Url:
DOI: 10.1002/humu.22607
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Rand</name><affiliation wicri:level="1"><country xml:lang="fr">Canada</country><wicri:regionArea>Division of Haematology/Oncology, Department of Paediatrics, Hospital for Sick Children, Toronto</wicri:regionArea><wicri:noRegion>Toronto</wicri:noRegion></affiliation></author><author><name sortKey="Pujol Oix, Nuria" sort="Pujol Oix, Nuria" uniqKey="Pujol Oix N" first="Nuria" last="Pujol-Moix">Nuria Pujol-Moix</name><affiliation wicri:level="3"><country xml:lang="fr">Espagne</country><wicri:regionArea>Department of Medicine, Autonomous University of Barcelona and Sant Pau Research Institute, Barcelona</wicri:regionArea><placeName><settlement type="city">Barcelone</settlement><region nuts="2" type="region">Catalogne</region></placeName></affiliation></author><author><name sortKey="Caliskan, Umran" sort="Caliskan, Umran" uniqKey="Caliskan U" first="Umran" last="Caliskan">Umran Caliskan</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Necmettin Erbakan University, Meram Faculty of Medicine, Meram‐Konya</wicri:regionArea><wicri:noRegion>Meram‐Konya</wicri:noRegion></affiliation></author><author><name sortKey="Tokgoz, Huseyin" sort="Tokgoz, Huseyin" uniqKey="Tokgoz H" first="Huseyin" last="Tokgoz">Huseyin Tokgoz</name><affiliation wicri:level="1"><country xml:lang="fr">Turquie</country><wicri:regionArea>Necmettin Erbakan University, Meram Faculty of Medicine, Meram‐Konya</wicri:regionArea><wicri:noRegion>Meram‐Konya</wicri:noRegion></affiliation></author><author><name sortKey="Pecci, Alessandro" sort="Pecci, Alessandro" uniqKey="Pecci A" first="Alessandro" last="Pecci">Alessandro Pecci</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Policlinico San Matteo Foundation – University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Noris, Patrizia" sort="Noris, Patrizia" uniqKey="Noris P" first="Patrizia" last="Noris">Patrizia Noris</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Policlinico San Matteo Foundation – University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Srivastava, Alok" sort="Srivastava, Alok" uniqKey="Srivastava A" first="Alok" last="Srivastava">Alok Srivastava</name><affiliation wicri:level="1"><country xml:lang="fr">Inde</country><wicri:regionArea>Department of Haematology, Christian Medical College, Vellore</wicri:regionArea><wicri:noRegion>Vellore</wicri:noRegion></affiliation></author><author><name sortKey="Ward, Christopher" sort="Ward, Christopher" uniqKey="Ward C" first="Christopher" last="Ward">Christopher Ward</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney and Dept. of Hematology and Transfusion Medicine, Royal North Shore Hospital, Saint Leonards</wicri:regionArea><wicri:noRegion>Saint Leonards</wicri:noRegion></affiliation></author><author><name sortKey="Morel Opp, Marie Hristine" sort="Morel Opp, Marie Hristine" uniqKey="Morel Opp M" first="Marie-Christine" last="Morel-Kopp">Marie-Christine Morel-Kopp</name><affiliation wicri:level="1"><country xml:lang="fr">Australie</country><wicri:regionArea>Northern Blood Research Centre, Kolling Institute of Medical Research, University of Sydney and Dept. of Hematology and Transfusion Medicine, Royal North Shore Hospital, Saint Leonards</wicri:regionArea><wicri:noRegion>Saint Leonards</wicri:noRegion></affiliation></author><author><name sortKey="Alessi, Marie Hristine" sort="Alessi, Marie Hristine" uniqKey="Alessi M" first="Marie-Christine" last="Alessi">Marie-Christine Alessi</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire d’Hématologie, INSERM UMR 1062, Faculté de Médecine, Université Aix Marseille, Marseille</wicri:regionArea><placeName><region type="region">Provence-Alpes-Côte d'Azur</region><region type="old region">Provence-Alpes-Côte d'Azur</region><settlement type="city">Marseille</settlement></placeName></affiliation></author><author><name sortKey="Bellucci, Sylvia" sort="Bellucci, Sylvia" uniqKey="Bellucci S" first="Sylvia" last="Bellucci">Sylvia Bellucci</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie biologique, AP‐HP, Hôpital Lariboisière, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Beurrier, Philippe" sort="Beurrier, Philippe" uniqKey="Beurrier P" first="Philippe" last="Beurrier">Philippe Beurrier</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Centre de Traitement de l’Hémophilie, Centre Hospitalier Universitaire d’Angers, Angers</wicri:regionArea><placeName><region type="region">Pays de la Loire</region><region type="old region">Pays de la Loire</region><settlement type="city">Angers</settlement></placeName></affiliation></author><author><name sortKey="De Maistre, Emmanuel" sort="De Maistre, Emmanuel" uniqKey="De Maistre E" first="Emmanuel" last="De Maistre">Emmanuel De Maistre</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU de Dijon, CRTH et Centre des coagulopathies, Hôpital du Bocage, Dijon</wicri:regionArea><placeName><region type="region">Bourgogne-Franche-Comté</region><region type="old region">Bourgogne</region><settlement type="city">Dijon</settlement></placeName></affiliation></author><author><name sortKey="Favier, Remi" sort="Favier, Remi" uniqKey="Favier R" first="Rémi" last="Favier">Rémi Favier</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Assistance Publique‐ Hôpitaux de Paris, Service d’Hématologie Biologique, Hôpital d'enfants A Trousseau, Paris; InsermU1009, Villejuif</wicri:regionArea><wicri:noRegion>Villejuif</wicri:noRegion><wicri:noRegion>Villejuif</wicri:noRegion></affiliation></author><author><name sortKey="Hezard, Nathalie" sort="Hezard, Nathalie" uniqKey="Hezard N" first="Nathalie" last="Hézard">Nathalie Hézard</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>CHU Reims, Hôpital Robert Debré, Laboratoire d’Hématologie, Reims</wicri:regionArea><placeName><region type="region">Grand Est</region><region type="old region">Champagne-Ardenne</region><settlement type="city">Reims</settlement></placeName></affiliation></author><author><name sortKey="Hurtaud Oux, Marie Rancoise" sort="Hurtaud Oux, Marie Rancoise" uniqKey="Hurtaud Oux M" first="Marie-Françoise" last="Hurtaud-Roux">Marie-Françoise Hurtaud-Roux</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie Biologique, Hôpital Robert Debré, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName></affiliation></author><author><name sortKey="Latger Annard, Veronique" sort="Latger Annard, Veronique" uniqKey="Latger Annard V" first="Véronique" last="Latger-Cannard">Véronique Latger-Cannard</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie Biologique, CHU, Nancy, and Centre de Compétence des Pathologies Plaquettaires Nord‐Est</wicri:regionArea><wicri:noRegion>and Centre de Compétence des Pathologies Plaquettaires Nord‐Est</wicri:noRegion><wicri:noRegion>and Centre de Compétence des Pathologies Plaquettaires Nord‐Est</wicri:noRegion></affiliation></author><author><name sortKey="Lavenu Ombled, Cecile" sort="Lavenu Ombled, Cecile" uniqKey="Lavenu Ombled C" first="Cécile" last="Lavenu-Bombled">Cécile Lavenu-Bombled</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie Biologique, CRPP, Hôpital Bicêtre, Assistance Publique‐Hôpitaux de Paris, Université Paris‐Sud, Le Kremlin Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Proulle, Valerie" sort="Proulle, Valerie" uniqKey="Proulle V" first="Valérie" last="Proulle">Valérie Proulle</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service d’Hématologie Biologique, CRPP, Hôpital Bicêtre, Assistance Publique‐Hôpitaux de Paris, Université Paris‐Sud, Le Kremlin Bicêtre</wicri:regionArea><wicri:noRegion>Le Kremlin Bicêtre</wicri:noRegion><wicri:noRegion>Le Kremlin Bicêtre</wicri:noRegion></affiliation></author><author><name sortKey="Meunier, Sandrine" sort="Meunier, Sandrine" uniqKey="Meunier S" first="Sandrine" last="Meunier">Sandrine Meunier</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité d’Hémostase Clinique, CHU de Lyon, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Negrier, Claude" sort="Negrier, Claude" uniqKey="Negrier C" first="Claude" last="Négrier">Claude Négrier</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Unité d’Hémostase Clinique, Hôpital Edouard Herriot, Lyon</wicri:regionArea><placeName><region type="region">Auvergne-Rhône-Alpes</region><region type="old region">Rhône-Alpes</region><settlement type="city">Lyon</settlement></placeName></affiliation></author><author><name sortKey="Nurden, Alan" sort="Nurden, Alan" uniqKey="Nurden A" first="Alan" last="Nurden">Alan Nurden</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Institut de Rythmologie et Modélisation Cardiaque (LIRYC), Plateforme Technologique et d’Innovation Biomédicale, Hôpital Xavier Arnozan, Pessac</wicri:regionArea><wicri:noRegion>Pessac</wicri:noRegion><wicri:noRegion>Pessac</wicri:noRegion></affiliation></author><author><name sortKey="Randrianaivo, Hanitra" sort="Randrianaivo, Hanitra" uniqKey="Randrianaivo H" first="Hanitra" last="Randrianaivo">Hanitra Randrianaivo</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Medical Genetic Unit, Pôle Femme‐Mère‐Enfant, Centre Hospitalier Universitaire, Saint‐Pierre, La Réunion</wicri:regionArea><wicri:noRegion>La Réunion</wicri:noRegion><wicri:noRegion>La Réunion</wicri:noRegion></affiliation></author><author><name sortKey="Fabris, Fabrizio" sort="Fabris, Fabrizio" uniqKey="Fabris F" first="Fabrizio" last="Fabris">Fabrizio Fabris</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Medicine‐DIMED, University of Padova, Padua</wicri:regionArea><wicri:noRegion>Padua</wicri:noRegion></affiliation></author><author><name sortKey="Platokouki, Helen" sort="Platokouki, Helen" uniqKey="Platokouki H" first="Helen" last="Platokouki">Helen Platokouki</name><affiliation wicri:level="3"><country xml:lang="fr">Grèce</country><wicri:regionArea>Haemophilia Centre/Haemostasis Unit “Aghia Sophia”, Children's Hospital, Athens</wicri:regionArea><placeName><settlement type="city">Athènes</settlement><region nuts="2" type="region">Attique (région)</region></placeName></affiliation></author><author><name sortKey="Rosenberg, Nurit" sort="Rosenberg, Nurit" uniqKey="Rosenberg N" first="Nurit" last="Rosenberg">Nurit Rosenberg</name><affiliation wicri:level="1"><country xml:lang="fr">Israël</country><wicri:regionArea>Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center</wicri:regionArea><wicri:noRegion>Sheba Medical Center</wicri:noRegion></affiliation></author><author><name sortKey="Hadjkacem, Basma" sort="Hadjkacem, Basma" uniqKey="Hadjkacem B" first="Basma" last="Hadjkacem">Basma Hadjkacem</name><affiliation wicri:level="1"><country xml:lang="fr">Tunisie</country><wicri:regionArea>Centre de Biotechnologie de Sfax, Sfax University, Sfax</wicri:regionArea><wicri:noRegion>Sfax</wicri:noRegion></affiliation></author><author><name sortKey="Heller, Paula G" sort="Heller, Paula G" uniqKey="Heller P" first="Paula G." last="Heller">Paula G. Heller</name><affiliation wicri:level="1"><country xml:lang="fr">Argentine</country><wicri:regionArea>Hematología Investigación, Instituto de Investigaciones Médicas A. Lanari, Universidad de Buenos Aires. CONICET, Buenos Aires</wicri:regionArea><wicri:noRegion>Buenos Aires</wicri:noRegion></affiliation></author><author><name sortKey="Karimi, Mehran" sort="Karimi, Mehran" uniqKey="Karimi M" first="Mehran" last="Karimi">Mehran Karimi</name><affiliation wicri:level="1"><country xml:lang="fr">Iran</country><wicri:regionArea>Hematology Research Center, Shiraz University of Medical Sciences, Shiraz</wicri:regionArea><wicri:noRegion>Shiraz</wicri:noRegion></affiliation></author><author><name sortKey="Balduini, Carlo L" sort="Balduini, Carlo L" uniqKey="Balduini C" first="Carlo L." last="Balduini">Carlo L. Balduini</name><affiliation wicri:level="1"><country xml:lang="fr">Italie</country><wicri:regionArea>IRCCS Policlinico San Matteo Foundation – University of Pavia, Pavia</wicri:regionArea><wicri:noRegion>Pavia</wicri:noRegion></affiliation></author><author><name sortKey="Pastore, Annalisa" sort="Pastore, Annalisa" uniqKey="Pastore A" first="Annalisa" last="Pastore">Annalisa Pastore</name><affiliation wicri:level="3"><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><wicri:orgArea>King's College London, Dept. of Clinical Neuroscience, Denmark Hill Campus</wicri:orgArea></affiliation></author><author><name sortKey="Lanza, Francois" sort="Lanza, Francois" uniqKey="Lanza F" first="Francois" last="Lanza">Francois Lanza</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>INSERM UMR S_949, Strasbourg, France; EFS‐Alsace, Strasbourg, France; Université de Strasbourg, Strasbourg, France; Centre de Compétence des Pathologies Plaquettaires Nord‐Est</wicri:regionArea><orgName type="university">Université de Strasbourg</orgName><placeName><settlement type="city">Strasbourg</settlement><region type="region" nuts="2">Grand Est</region><region type="old region" nuts="2">Alsace (région administrative)</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Human Mutation</title><title level="j" type="alt">HUMAN MUTATION</title><idno type="ISSN">1059-7794</idno><idno type="eISSN">1098-1004</idno><imprint><biblScope unit="vol">35</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="1033">1033</biblScope><biblScope unit="page" to="1045">1045</biblScope><biblScope unit="page-count">13</biblScope><date type="published" when="2014-09">2014-09</date></imprint><idno type="ISSN">1059-7794</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1059-7794</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder characterized by defects of the GPIb‐IX‐V complex, a platelet receptor for von Willebrand factor (VWF). Most of the mutations identified in the genes encoding for the GP1BA (GPIbα), GP1BB (GPIbβ), and GP9 (GPIX) subunits prevent expression of the complex at the platelet membrane or more rarely its interaction with VWF. As a consequence, platelets are unable to adhere to the vascular subendothelium and agglutinate in response to ristocetin. In order to collect information on BSS patients, we established an International Consortium for the study of BSS, allowing us to enrol and genotype 132 families (56 previously unreported). With 79 additional families for which molecular data were gleaned from the literature, the 211 families characterized so far have mutations in the GP1BA (28%), GP1BB (28%), or GP9 (44%) genes. There is a wide spectrum of mutations with 112 different variants, including 22 novel alterations. Consistent with the rarity of the disease, 85% of the probands carry homozygous mutations with evidence of founder effects in some geographical areas. This overview provides the first global picture of the molecular basis of BSS and will lead to improve patient diagnosis and management.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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