MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene

Autores
de Rocco, Daniela; Heller, Paula Graciela; Girotto, Giorgia; Pastore, Annalisa; Glembotsky, Ana Claudia; Marta, Rosana Fernanda; Bozzi, Valeria; Pecci, Alessandro; Molinas, Felisa Concepción; Savoia, Anna
Año de publicación
2009
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.
Fil: de Rocco, Daniela. Università degli Studi di Trieste; Italia
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Girotto, Giorgia. Università degli Studi di Trieste; Italia
Fil: Pastore, Annalisa. National Institute for Medical Research; Reino Unido
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Bozzi, Valeria. Universita Degli Studi Di Pavia; Italia
Fil: Pecci, Alessandro. Universita Degli Studi Di Pavia; Italia
Fil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Savoia, Anna. Università degli Studi di Trieste; Italia
Materia
MYH9-related disease
macrothrombocytopenia
neutrophil aggregate
mutational screening
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/105272
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/105272
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 genede Rocco, DanielaHeller, Paula GracielaGirotto, GiorgiaPastore, AnnalisaGlembotsky, Ana ClaudiaMarta, Rosana FernandaBozzi, ValeriaPecci, AlessandroMolinas, Felisa ConcepciónSavoia, AnnaMYH9-related diseasemacrothrombocytopenianeutrophil aggregatemutational screeninghttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.Fil: de Rocco, Daniela. Università degli Studi di Trieste; ItaliaFil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Girotto, Giorgia. Università degli Studi di Trieste; ItaliaFil: Pastore, Annalisa. National Institute for Medical Research; Reino UnidoFil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Bozzi, Valeria. Universita Degli Studi Di Pavia; ItaliaFil: Pecci, Alessandro. Universita Degli Studi Di Pavia; ItaliaFil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; ArgentinaFil: Savoia, Anna. Università degli Studi di Trieste; ItaliaTaylor & Francis2009-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/105272de Rocco, Daniela; Heller, Paula Graciela; Girotto, Giorgia; Pastore, Annalisa; Glembotsky, Ana Claudia; et al.; MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene; Taylor & Francis; Platelets; 20; 8; 10-2009; 598-6020953-7104CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/09537100903349620info:eu-repo/semantics/altIdentifier/doi/10.3109/09537100903349620info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:24:41Zoai:ri.conicet.gov.ar:11336/105272instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:24:41.388CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
title MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
spellingShingle MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
de Rocco, Daniela
MYH9-related disease
macrothrombocytopenia
neutrophil aggregate
mutational screening
title_short MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
title_full MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
title_fullStr MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
title_full_unstemmed MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
title_sort MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene
dc.creator.none.fl_str_mv de Rocco, Daniela
Heller, Paula Graciela
Girotto, Giorgia
Pastore, Annalisa
Glembotsky, Ana Claudia
Marta, Rosana Fernanda
Bozzi, Valeria
Pecci, Alessandro
Molinas, Felisa Concepción
Savoia, Anna
author de Rocco, Daniela
author_facet de Rocco, Daniela
Heller, Paula Graciela
Girotto, Giorgia
Pastore, Annalisa
Glembotsky, Ana Claudia
Marta, Rosana Fernanda
Bozzi, Valeria
Pecci, Alessandro
Molinas, Felisa Concepción
Savoia, Anna
author_role author
author2 Heller, Paula Graciela
Girotto, Giorgia
Pastore, Annalisa
Glembotsky, Ana Claudia
Marta, Rosana Fernanda
Bozzi, Valeria
Pecci, Alessandro
Molinas, Felisa Concepción
Savoia, Anna
author2_role author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv MYH9-related disease
macrothrombocytopenia
neutrophil aggregate
mutational screening
topic MYH9-related disease
macrothrombocytopenia
neutrophil aggregate
mutational screening
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.
Fil: de Rocco, Daniela. Università degli Studi di Trieste; Italia
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Girotto, Giorgia. Università degli Studi di Trieste; Italia
Fil: Pastore, Annalisa. National Institute for Medical Research; Reino Unido
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Marta, Rosana Fernanda. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Bozzi, Valeria. Universita Degli Studi Di Pavia; Italia
Fil: Pecci, Alessandro. Universita Degli Studi Di Pavia; Italia
Fil: Molinas, Felisa Concepción. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
Fil: Savoia, Anna. Università degli Studi di Trieste; Italia
description MYH9-related disease (MYH9-RD) is a rare autosomal dominant disorder caused by mutations in MYH9, the gene encoding the heavy chain of non-muscle myosin IIA. Patients present with congenital macrothrombocytopenia and inclusion bodies in neutrophils and might develop sensorineural deafness, presenile cataract, and/or progressive nephritis leading to end-stage renal failure. In a family with eight individuals suffering from macrothrombocytopenia and hearing impairment we identified a novel c.Ala95Asp mutation. Affecting the motor domain of the protein, the mutation is likely to be associated with a severe phenotype. Therefore, this family should be carefully monitored to follow-up the renal status even though the affected members do not seem to be at risk of early kidney disease.
publishDate 2009
dc.date.none.fl_str_mv 2009-10
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/105272
de Rocco, Daniela; Heller, Paula Graciela; Girotto, Giorgia; Pastore, Annalisa; Glembotsky, Ana Claudia; et al.; MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene; Taylor & Francis; Platelets; 20; 8; 10-2009; 598-602
0953-7104
CONICET Digital
CONICET
url http://hdl.handle.net/11336/105272
identifier_str_mv de Rocco, Daniela; Heller, Paula Graciela; Girotto, Giorgia; Pastore, Annalisa; Glembotsky, Ana Claudia; et al.; MYH9 related disease : a novel missense Ala95Asp mutation of the MYH9 gene; Taylor & Francis; Platelets; 20; 8; 10-2009; 598-602
0953-7104
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/https://www.tandfonline.com/doi/full/10.3109/09537100903349620
info:eu-repo/semantics/altIdentifier/doi/10.3109/09537100903349620
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Taylor & Francis
publisher.none.fl_str_mv Taylor & Francis
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1844614243823910912
score 13.070432

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