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dc.contributor.author
Bottega, Roberta
dc.contributor.author
Nicchia, Elena
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Alfano, Caterina
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Glembotsky, Ana Claudia
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Pastore, Annalisa
dc.contributor.author
Bertaggia Calderara, Debora
dc.contributor.author
Bisig, Bettina
dc.contributor.author
Duchosal, Michel A.
dc.contributor.author
Arbesú, Guillermo
dc.contributor.author
Alberio, Lorenzo
dc.contributor.author
Heller, Paula Graciela
dc.contributor.author
Savoia, Anna
dc.date.available
2018-06-05T13:27:51Z
dc.date.issued
2017-02
dc.identifier.citation
Bottega, Roberta; Nicchia, Elena; Alfano, Caterina; Glembotsky, Ana Claudia; Pastore, Annalisa; et al.; Gray platelet syndrome: Novel mutations of the NBEAL2 gene; Wiley-liss, Div John Wiley & Sons Inc; American Journal Of Hematology; 92; 2; 2-2017; E20-E22
dc.identifier.issn
0361-8609
dc.identifier.uri
http://hdl.handle.net/11336/47272
dc.description.abstract
Gray platelet syndrome (GPS) is a rare inherited macrothrombocytopenia characterized by reduction of a-granules in platelets and megakaryocytes associated with mild-tomoderate bleeding and myelofibrosis [1]. As reported in at least 28 unrelated families [1], GPS is caused by mutations of NBEAL2, the gene encoding for the neurobeachin-like-2 protein. NBEAL2 is a member of the family containing the BEACH (BEige And Chediak Higashi) domain, a conserved region involved in vesicular trafficking that may be critical for the a-granule development [2]. Here, we report novel mutations of NBEAL2 in two affected individuals (P1 and P2), who were previously diagnosed with immune thrombocytopenia (ITP) and then suspected to have GPS because of absence of azurophilic granules on May-Grunwald-Giemsa staining. In P1, sequencing analysis identified an € homozygous missense variant (c.6212G > C; p.Arg2071Pro; Supporting Information Fig. S1). Since her parents were not available for the segregation analysis, we hypothesised that the two mutant alleles were identical by descent because of homozygosity of all the polymorphic markers at the NBEAL2 locus (data not shown). Moreover, the potential hemizygous condition was excluded using statistical analyses of NBEAL2 amplicon coverage as previously reported (Supporting Information Fig. S1C) [3]. In P2, we detected one maternal nonsense (c.3839C > T; p.Arg1280*) and one paternal missense (c.6477C > G; p.His2159Gln; Supporting Information Fig. S1). The three NBEAL2 variants are reported in SNPs databases but with a minor allele frequency <0.01%.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Wiley-liss, Div John Wiley & Sons Inc
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.subject
Nbeal2
dc.subject
Gray Platelet Syndrome
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Platelets
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Mutations
dc.subject.classification
Salud Ocupacional
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Ciencias de la Salud
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
Gray platelet syndrome: Novel mutations of the NBEAL2 gene
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2018-06-04T17:20:45Z
dc.journal.volume
92
dc.journal.number
2
dc.journal.pagination
E20-E22
dc.journal.pais
Estados Unidos
dc.journal.ciudad
Nueva York
dc.description.fil
Fil: Bottega, Roberta. Università degli Studi di Trieste; Italia
dc.description.fil
Fil: Nicchia, Elena. Università degli Studi di Trieste; Italia
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Fil: Alfano, Caterina. King's College London; Reino Unido
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Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.description.fil
Fil: Pastore, Annalisa. King's College London; Reino Unido
dc.description.fil
Fil: Bertaggia Calderara, Debora. Universite de Lausanne; Suiza
dc.description.fil
Fil: Bisig, Bettina. Universite de Lausanne; Suiza
dc.description.fil
Fil: Duchosal, Michel A.. Universite de Lausanne; Suiza
dc.description.fil
Fil: Arbesú, Guillermo. Hospital Pediátrico Dr. Humberto Notti; Argentina
dc.description.fil
Fil: Alberio, Lorenzo. Universite de Lausanne; Suiza
dc.description.fil
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas; Argentina. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.description.fil
Fil: Savoia, Anna. Università degli Studi di Trieste; Italia. Institute for Maternal and Child Health; Italia
dc.journal.title
American Journal Of Hematology
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/https://dx.doi.org/10.1002/ajh.24610
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/ajh.24610
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