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dc.contributor.author
Woods, Adriana Inés
dc.contributor.author
Sánchez Luceros, Analía Gabriela
dc.contributor.author
Bermejo, Emilse
dc.contributor.author
Paiva, Juvenal
dc.contributor.author
Alberto, Maria Fabiana
dc.contributor.author
Grosso, Silvia H.
dc.contributor.author
Kempfer, Ana Catalina
dc.contributor.author
Lazzari, María Ángela
dc.date.available
2017-12-01T17:44:03Z
dc.date.issued
2014-01
dc.identifier.citation
Woods, Adriana Inés; Sánchez Luceros, Analía Gabriela; Bermejo, Emilse; Paiva, Juvenal; Alberto, Maria Fabiana; et al.; Identification of p.W246L As a Novel Mutation in the GP1BA Gene Responsible for Platelet-Type von Willebrand Disease; Thieme Medical Publ Inc; Seminars In Thrombosis And Hemostasis; 40; 2; 1-2014; 151-160
dc.identifier.issn
0094-6176
dc.identifier.uri
http://hdl.handle.net/11336/29465
dc.description.abstract
Platelet-type von Willebrand disease (PT-VWD) and type 2B von Willebrand disease (2B-VWD) are rare bleeding disorders characterized by increased ristocetin-induced platelet aggregation (RIPA) at low concentrations of ristocetin. Diagnosis of either condition is not easy and the differential diagnosis between the two entities is especially challenging as evidenced by high levels of misdiagnosis of both conditions, but particularly PT-VWD. Five mutations in the GP1BA gene related to PT-VWD and less than 50 patients are currently reported worldwide. We herein describe a patient with severe bleeding symptoms, macrothrombocytopenia, mild spontaneous platelet aggregation, positive RIPA at 0.3 and 0.4 mg/mL, von Willebrand factor ristocetin cofactor (VWF:RCo) to antigen (VWF:Ag) < 0.2, normal VWF propeptide/VWF:Ag ratio, and RIPA mixing tests and cryoprecipitate challenge positive for PT-VWD. GP1BA gene was studied in the patient, in his mother, and in 100 healthy control subjects. We identified a heterozygous substitution G > T located at nucleotide 3805 in the g.DNA of the patient's GP1BA gene, resulting in a Trp to Leu amino acid change at residue 246 (p.W246L). This mutation was absent in his unaffected mother and also in the 100 controls, and was predicted as damaging by in silico analysis. The residue W246 is located within the VWF-binding region and exists in a strongly conserved position in the phylogenetic tree, which is expected to be unable to tolerate substitutions without changing its functional characteristics. These findings argue strongly in favor of the view that this substitution does not represent a polymorphism and is therefore responsible for the PT-VWD phenotype of the patient
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Thieme Medical Publ Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Cryoprecipitate Challenge Assay
dc.subject
P.W246l
dc.subject
Platelet-Type Von Willebrand Disease
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Ripa Mixing Assay
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W230l
dc.subject.classification
Medicina Critica y de Emergencia
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Medicina Clínica
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Identification of p.W246L As a Novel Mutation in the GP1BA Gene Responsible for Platelet-Type von Willebrand Disease
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2017-10-09T16:41:31Z
dc.journal.volume
40
dc.journal.number
2
dc.journal.pagination
151-160
dc.journal.pais
Estados Unidos
dc.journal.ciudad
New York
dc.description.fil
Fil: Woods, Adriana Inés. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Sánchez Luceros, Analía Gabriela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Bermejo, Emilse. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Paiva, Juvenal. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Alberto, Maria Fabiana. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Grosso, Silvia H.. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.description.fil
Fil: Kempfer, Ana Catalina. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina
dc.description.fil
Fil: Lazzari, María Ángela. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Medicina Experimental. Academia Nacional de Medicina de Buenos Aires. Instituto de Medicina Experimental; Argentina. Academia Nacional de Medicina de Buenos Aires; Argentina
dc.journal.title
Seminars In Thrombosis And Hemostasis
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1055/s-0033-1364183
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1364183
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