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To date, only seven variants have been described with this gain\u2010of\u2010function effect, most of them located in the C\u2010terminal disulphide loop of the VWF\u2010binding domain of GPIb\u03b1. We herein describe a patient with moderate bleeding symptoms, mild thrombocytopenia and increased RIPA. By direct sequencing of <jats:italic>GP1BA<\/jats:italic>, a novel leucine\u2010rich repeat heterozygous variant was identified (c.580C&gt;T; predictably p.Leu194Phe), strongly suggestive as being the underlying cause for the PT\u2010VWD phenotype of our patient.<\/jats:p>","DOI":"10.1111\/bjh.19025","type":"journal-article","created":{"date-parts":[[2023,8,19]],"date-time":"2023-08-19T09:08:10Z","timestamp":1692436090000},"page":"673-677","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["A new case of platelet\u2010type von Willebrand disease supports the recent findings of gain\u2010of\u2010function <i>GP1BA<\/i> variants outside the C\u2010terminal disulphide loop enhances affinity for von Willebrand factor"],"prefix":"10.1111","volume":"203","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6659-4951","authenticated-orcid":false,"given":"Catarina","family":"Monteiro","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular, Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio (CHUdSA)  Porto Portugal"},{"name":"Unidade de Trombose e Hemostase &amp; Centro de Coagulopatias Cong\u00e9nitas Servi\u00e7o de Imuno\u2010hemoterapia, CHUdSA  Porto Portugal"},{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Gon\u00e7alves","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular, Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio (CHUdSA)  Porto Portugal"},{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M\u00f3nica","family":"Pereira","sequence":"additional","affiliation":[{"name":"Unidade de Trombose e Hemostase &amp; Centro de Coagulopatias Cong\u00e9nitas Servi\u00e7o de Imuno\u2010hemoterapia, CHUdSA  Porto Portugal"},{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catarina","family":"Lau","sequence":"additional","affiliation":[{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"},{"name":"Unidade de Diagn\u00f3stico Hematol\u00f3gico Margarida Lima Servi\u00e7o de Imuno\u2010hemoterapia, CHUdSA  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Morais","sequence":"additional","affiliation":[{"name":"Unidade de Trombose e Hemostase &amp; Centro de Coagulopatias Cong\u00e9nitas Servi\u00e7o de Imuno\u2010hemoterapia, CHUdSA  Porto Portugal"},{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ros\u00e1rio","family":"Santos","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular, Centro de Gen\u00e9tica M\u00e9dica Jacinto Magalh\u00e3es Centro Hospitalar Universit\u00e1rio de Santo Ant\u00f3nio (CHUdSA)  Porto Portugal"},{"name":"UMIB \u2010 Unit for Multidisciplinary Research in Biomedicine, ICBAS \u2010 School of Medicine and Biomedical Sciences University of Porto (UMIB\/ICBAS\/UP)  Porto Portugal"},{"name":"ITR \u2010 Laboratory for Integrative and Translational Research in Population Health  Porto Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,8,17]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14597"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1586\/ehm.11.45"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.14827"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005463"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0031-1281030"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2006-05-024091"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.blre.2011.03.003"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2007.06850.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2018.200378"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0033-1364183"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0734-9750(97)87571-4"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V81.7.1787.1787"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1538-7836.2003.00369.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2002-09-2942"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2006.06078.x"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1111\/jth.12144"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0235136"}],"container-title":["British Journal of Haematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/bjh.19025","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,7,17]],"date-time":"2024-07-17T06:28:31Z","timestamp":1721197711000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/bjh.19025"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,17]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,11]]}},"alternative-id":["10.1111\/bjh.19025"],"URL":"https:\/\/doi.org\/10.1111\/bjh.19025","archive":["Portico"],"relation":{},"ISSN":["0007-1048","1365-2141"],"issn-type":[{"value":"0007-1048","type":"print"},{"value":"1365-2141","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,17]]},"assertion":[{"value":"2023-04-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-07-24","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-08-17","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}