{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,27]],"date-time":"2025-10-27T04:53:27Z","timestamp":1761540807863},"reference-count":0,"publisher":"Georg Thieme Verlag KG","issue":"12","funder":[{"name":"Telethon Foundation and MURST"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Thromb Haemost"],"published-print":{"date-parts":[[2007]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Mutations in the A1 domain of von Willebrand factor (VWF) may be associated with gain of function in theVWF-platelet GPIb interaction and consumption of largeVWF multimers, as seen in type 2B von Willebrand disease (VWD). We report a new VWF abnormality associated with greater VWF-GPIb interaction in the presence of all VWF multimers. The index case is a woman with a lifelong history of bleeding, found hyperresponsive to ristocetin with spontaneous platelet aggregation (SPA). She had normal factor VIII,VWF:Ag,VWF:RCo and VWF:CB levels, normal VWF:RCo\/VWF:Ag and VWF:CB\/VWF:Ag ratios, and a full panel of plasma and platelet VWF multimers. A missense mutation (4115T&gt;G) was found in exon 28 of theVWF gene, which replaced a isoleucine with a serine at position 1372 of pre-pro-VWF (I1372S) at heterozygous level. Recombinant VWF carrying the I1372S mutation and showing a normal VWF multimer organisation was capable of inducing SPA on normal plateletrich plasma (unlike wild-type VWF), as well as a hyper-response to ristocetin in the same platelets (0.6 mg\/ml ristocetin vs. 1.2 of wild-type VWF). The new I1372S VWF mutation, characterised by SPA and hyper-responsiveness to ristocetin thus has some of the features of type 2B VWD, but not the lack of large VWF multimers, so we defined this variant as type 2B-likeVWD. Why I1372SVWF is associated with bleeding symptoms, despite normalVWF levels and multimer organisation,remains to be seen.<\/jats:p>","DOI":"10.1160\/th07-05-0347","type":"journal-article","created":{"date-parts":[[2007,11,20]],"date-time":"2007-11-20T12:48:46Z","timestamp":1195562926000},"page":"1182-1187","source":"Crossref","is-referenced-by-count":10,"title":["A novel von Willebrand factor mutation (I1372S) associated with type 2B-like von Willebrand disease: An elusive phenotype and a difficult diagnosis"],"prefix":"10.1160","volume":"98","author":[{"given":"Francesca","family":"Sartorello","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Pontara","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa","family":"Gallinaro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonella","family":"Bertomoro","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Grazia","family":"Cattini","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Viviana","family":"Daidone","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maryta","family":"Szukowska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Pagnan","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Casonato","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"194","published-online":{"date-parts":[[2017,11,30]]},"container-title":["Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1160\/TH07-05-0347.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,3,20]],"date-time":"2018-03-20T07:48:23Z","timestamp":1521532103000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1160\/TH07-05-0347"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007]]},"references-count":0,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2017,11,30]]},"published-print":{"date-parts":[[2007]]}},"URL":"https:\/\/doi.org\/10.1160\/th07-05-0347","relation":{},"ISSN":["0340-6245","2567-689X"],"issn-type":[{"value":"0340-6245","type":"print"},{"value":"2567-689X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007]]}}}