Please use this identifier to cite or link to this item:
http://sgc.anlis.gob.ar/handle/123456789/2482
DC Field | Value | Language |
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dc.contributor.author | Mendez, Rodrigo | es |
dc.contributor.author | Iqbal, Sumaiya | es |
dc.contributor.author | Vishnopolska, Sebastián A | es |
dc.contributor.author | Martínez, Cinthia | es |
dc.contributor.author | Dibner, Glenda | es |
dc.contributor.author | Aliano, Rocio | es |
dc.contributor.author | Zaiat, Jonathan | es |
dc.contributor.author | Biagioli, Germán | es |
dc.contributor.author | Fernandez, Cecilia | es |
dc.contributor.author | Turjanski, Adrián G | es |
dc.contributor.author | Campbell, Arthur J | es |
dc.contributor.author | Mercado, Graciela | es |
dc.contributor.author | Marti, Marcelo A | es |
dc.date.accessioned | 2022-12-12T17:48:27Z | - |
dc.date.available | 2022-12-12T17:48:27Z | - |
dc.date.issued | 2021-06 | - |
dc.identifier.uri | http://sgc.anlis.gob.ar/handle/123456789/2482 | - |
dc.description | Fil: Mendez, Rodrigo. ANLIS Dr. C. G. Malbrán. Centro Nacional de Genética Médica (CeNaGeM). Departamento de medicina genética; Argentina | es |
dc.description | Fil: Iqbal, Sumaiya. Center for Development of Therapeutics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts; United States | es |
dc.description | Fil: Vishnopolska, Sebastián. Universidad de Buenos Aires; Buenos Aires, Argentina | es |
dc.description | Fil: Martinez, Cinthia. Centro Nacional de Genética Médica "Dr. Eduardo E. Castilla", ANLIS; Buenos Aires, Argentina | es |
dc.description | Fil: Dibner, Glenda. Departamento de Oftalmología, Hospital Rivadavia; Buenos Aires, Argentina | es |
dc.description | Fil: Aliano, Rocio. Departamento de Oftalmología, Hospital Rivadavia; Buenos Aires, Argentina | es |
dc.description | Fil: Zaiat, Jonathan. Departamento de Química Biológica, Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET; Buenos Aires, Argentina | es |
dc.description | Fil: Biagioli, Germán. Universidad de Buenos Aires; Buenos Aires, Argentina | es |
dc.description | Fil: Fernandez, Cecilia. Laboratorio de Genética, Novagen; Buenos Aires, Argentina | es |
dc.description | Fil: Turjanski, Adrian. Departamento de Química Biológica, Instituto de Química Biológica de la Facultad de Ciencias Exactas y Naturales (IQUIBICEN) CONICET; Buenos Aires, Argenina | es |
dc.description | Fil: Campbell, Arthur J. Center for Development of Therapeutics, Broad Institute of MIT and Harvard; United States | es |
dc.description | Fil: Mercado, Graciela. Centro Nacional de Genética Médica "Dr. Eduardo E. Castilla", ANLIS; Buenos Aires, Argentina | es |
dc.description | Fil: Marti, Marcelo A. Universidad de Buenos Aires; Buenos Aires, Argentina | es |
dc.description.abstract | Background: Oculocutaneous albinism (OCA) is a Mendelian disorder characterized by hypopigmentation of the skin, hair, and eyes, hypoplastic fovea, and low vision, known to be caused by mutations in the Tyrosinase (TYR) gene. Among the known TYR variants, some reduce but do not completely eliminate tyrosinase activity, allowing residual production of melanin and resulting in a contradictory assignment as either pathogenic or benign, preventing a precise clinical diagnostic.Materials and Methods: In the present work, we performed Whole Exome Sequencing and subsequent Sanger sequencing in a young male clinically diagnosed with OCA.Results: Whole-exome sequencing analysis revealed the identification of two variants in trans in TYR. The first, corresponds to a known pathogenic variant G47D, while the second S192Y, was considered a polymorphism due to its relatively high frequency in the European population.Conclusion: The lack of other pathogenic variants in TYR, the reported reduced enzymatic activity (ca. 40% respect to wt) for S192Y, together with the structural in-silico analysis strongly suggest that both reported variants are jointly disease-causing and that S192Y should be considered as likely pathogenic, especially when it is found in trans with a null variant. | es |
dc.language.iso | en | es |
dc.relation.ispartof | Ophthalmic genetics | es |
dc.subject | Tirosina Fenol-Liasa | es |
dc.subject | Secuenciación del Exoma Completo | es |
dc.title | Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing | es |
dc.type | Artículo | es |
dc.identifier.doi | 10.1080/13816810.2021.1888129 | - |
item.openairecristype | http://purl.org/coar/resource_type/c_18cf | - |
item.cerifentitytype | Publications | - |
item.grantfulltext | none | - |
item.openairetype | Artículo | - |
item.fulltext | No Fulltext | - |
item.languageiso639-1 | en | - |
crisitem.author.dept | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
crisitem.author.dept | Centro Nacional de Genética Médica (CeNaGeM) | - |
crisitem.author.parentorg | Administración Nacional de Laboratorios e Institutos de Salud “Dr. Carlos G. Malbrán” (ANLIS) | - |
Appears in Collections: | Artículos |
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