{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,12]],"date-time":"2026-05-12T04:42:41Z","timestamp":1778560961575,"version":"3.51.4"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T00:00:00Z","timestamp":1551312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004901","name":"Funda\u00e7\u00e3o de Amparo \u00e0 Pesquisa do Estado de Minas Gerais","doi-asserted-by":"publisher","award":["CDS - APQ-03482-13"],"award-info":[{"award-number":["CDS - APQ-03482-13"]}],"id":[{"id":"10.13039\/501100004901","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007374","name":"Universidade Federal de Minas Gerais","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007374","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2019,3]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>von Willebrand disease (VWD) is the most common inherited bleeding disorder. Few studies have explored the molecular basis of type 2 VWD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aim<\/jats:title><jats:p>This study aimed to identify variants associated with type 2 VWD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We collected clinical and laboratory data, as well as response to desmopressin and bleeding assessment tool (BAT) score in patients diagnosed with type 2 VWD. We sequenced exons 17, 18, 20 and 28 of the <jats:italic>VWF<\/jats:italic> gene.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>We identified 19 different variants in 40 unrelated patients (47.5%). Most of the variants (84.2%) were found in exon 28. A total of 10\/19 variants (52.6%) were identified as \u201clikely causative\u201d in 17\/40 patients (42.5%), according to the ISTH\u2010SSC and EAHAD VWF gene mutations databases. Nine variants were initially identified as potentially benign. However, through analyses in silico, four of these variants were reclassified as \u201clikely pathogenic\u201d (Ile1380Val, Asn1435Ser, Ser1486Leu and Tyr1584Cys). Response to desmopressin was associated with three variants: Met740Ile, Arg1597Gln and Tyr1584Cys. Major bleeding was associated with variants related to VWD subtypes 2B and 2M.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>In conclusion, we identified 19 variants, of which 14 are \u201clikely pathogenic\u201d and therefore associated with VWD. We suggest a possible association of pathogenic variants with major bleeding, response to desmopressin and BAT score \u226510, although this requires further confirmation.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.13714","type":"journal-article","created":{"date-parts":[[2019,2,28]],"date-time":"2019-02-28T16:49:33Z","timestamp":1551372573000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Genetic variants of <i>VWF<\/i> gene in type 2 von Willebrand disease"],"prefix":"10.1111","volume":"25","author":[{"given":"Samuel da Silva","family":"Freitas","sequence":"first","affiliation":[{"name":"Funda\u00e7\u00e3o HEMOMINAS Minas Gerais Brazil"},{"name":"Faculty of Medicine Universidade Federal de Minas Gerais Minas Gerais Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3083-7093","authenticated-orcid":false,"given":"Suely 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