Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder

Autores
Savoia, Anna; de Rocco, Daniela; Panza, Emanuele; Bozzi, Valeria; Scandellari, Raffaella; Loffredo, Giuseppe; Mumford, Andrew; Heller, Paula Graciela; Noris, Patrizia; de Groot, Marco R.; Giani, Marisa; Freddi, Paolo; Scognamiglio, Francesca; Riondino, Silvia; Pujol Moix, Núria; Fabris, Fabrizio; Seri, Marco; Balduini, Carlo L.; Pecci, Alessandro
Año de publicación
2010
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9 -RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9 -RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9 -RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9 -RD.
Fil: Savoia, Anna. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; Italia
Fil: de Rocco, Daniela. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; Italia
Fil: Panza, Emanuele. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; Italia
Fil: Bozzi, Valeria. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
Fil: Scandellari, Raffaella. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; Italia
Fil: Loffredo, Giuseppe. Italian Registry for MYH9-Related Disease; Italia. Pausilipon Hospital; Italia
Fil: Mumford, Andrew. University of Bristol; Reino Unido
Fil: Heller, Paula Graciela. Italian Registry for MYH9-Related Disease; Italia. 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: Noris, Patrizia. Italian Registry for MYH9-Related Disease; Italia
Fil: de Groot, Marco R.. University of Bristol; Reino Unido
Fil: Giani, Marisa. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia
Fil: Freddi, Paolo. Italian Registry for MYH9-Related Disease; Italia
Fil: Scognamiglio, Francesca. Italian Registry for MYH9-Related Disease; Italia
Fil: Riondino, Silvia. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia
Fil: Pujol Moix, Núria. Universitat Autonoma de Barcelona; España
Fil: Fabris, Fabrizio. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; Italia
Fil: Seri, Marco. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; Italia
Fil: Balduini, Carlo L.. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
Fil: Pecci, Alessandro. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
Materia
Myh9-Related Diseases
Thrombocytopenia
Giant Platelets
Myh9 Gene
Neutrophil Inclusions
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:11336/15532
Acceder
id CONICETDig_2b19e855aeab169895adea0a5b2be8e4
oai_identifier_str oai:ri.conicet.gov.ar:11336/15532
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorderSavoia, Annade Rocco, DanielaPanza, EmanueleBozzi, ValeriaScandellari, RaffaellaLoffredo, GiuseppeMumford, AndrewHeller, Paula GracielaNoris, Patriziade Groot, Marco R.Giani, MarisaFreddi, PaoloScognamiglio, FrancescaRiondino, SilviaPujol Moix, NúriaFabris, FabrizioSeri, MarcoBalduini, Carlo L.Pecci, AlessandroMyh9-Related DiseasesThrombocytopeniaGiant PlateletsMyh9 GeneNeutrophil Inclusionshttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9 -RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9 -RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9 -RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9 -RD.Fil: Savoia, Anna. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; ItaliaFil: de Rocco, Daniela. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; ItaliaFil: Panza, Emanuele. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; ItaliaFil: Bozzi, Valeria. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; ItaliaFil: Scandellari, Raffaella. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; ItaliaFil: Loffredo, Giuseppe. Italian Registry for MYH9-Related Disease; Italia. Pausilipon Hospital; ItaliaFil: Mumford, Andrew. University of Bristol; Reino UnidoFil: Heller, Paula Graciela. Italian Registry for MYH9-Related Disease; Italia. 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: Noris, Patrizia. Italian Registry for MYH9-Related Disease; ItaliaFil: de Groot, Marco R.. University of Bristol; Reino UnidoFil: Giani, Marisa. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; ItaliaFil: Freddi, Paolo. Italian Registry for MYH9-Related Disease; ItaliaFil: Scognamiglio, Francesca. Italian Registry for MYH9-Related Disease; ItaliaFil: Riondino, Silvia. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; ItaliaFil: Pujol Moix, Núria. Universitat Autonoma de Barcelona; EspañaFil: Fabris, Fabrizio. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; ItaliaFil: Seri, Marco. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; ItaliaFil: Balduini, Carlo L.. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; ItaliaFil: Pecci, Alessandro. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; ItaliaSchattauer Gmbh-verlag Medizin Naturwissenschaften2010-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/15532Savoia, Anna; de Rocco, Daniela; Panza, Emanuele; Bozzi, Valeria; Scandellari, Raffaella; et al.; Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder; Schattauer Gmbh-verlag Medizin Naturwissenschaften; Thrombosis And Haemostasis; 103; 4; 3-2010; 683-8730340-6245enginfo:eu-repo/semantics/altIdentifier/doi/10.1160/TH09-08-0593info:eu-repo/semantics/altIdentifier/url/https://th.schattauer.de/contents/archive/issue/1059/manuscript/12714.htmlinfo:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:40:59Zoai:ri.conicet.gov.ar:11336/15532instacron: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 10:40:59.624CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
title Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
spellingShingle Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
Savoia, Anna
Myh9-Related Diseases
Thrombocytopenia
Giant Platelets
Myh9 Gene
Neutrophil Inclusions
title_short Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
title_full Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
title_fullStr Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
title_full_unstemmed Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
title_sort Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder
dc.creator.none.fl_str_mv Savoia, Anna
de Rocco, Daniela
Panza, Emanuele
Bozzi, Valeria
Scandellari, Raffaella
Loffredo, Giuseppe
Mumford, Andrew
Heller, Paula Graciela
Noris, Patrizia
de Groot, Marco R.
Giani, Marisa
Freddi, Paolo
Scognamiglio, Francesca
Riondino, Silvia
Pujol Moix, Núria
Fabris, Fabrizio
Seri, Marco
Balduini, Carlo L.
Pecci, Alessandro
author Savoia, Anna
author_facet Savoia, Anna
de Rocco, Daniela
Panza, Emanuele
Bozzi, Valeria
Scandellari, Raffaella
Loffredo, Giuseppe
Mumford, Andrew
Heller, Paula Graciela
Noris, Patrizia
de Groot, Marco R.
Giani, Marisa
Freddi, Paolo
Scognamiglio, Francesca
Riondino, Silvia
Pujol Moix, Núria
Fabris, Fabrizio
Seri, Marco
Balduini, Carlo L.
Pecci, Alessandro
author_role author
author2 de Rocco, Daniela
Panza, Emanuele
Bozzi, Valeria
Scandellari, Raffaella
Loffredo, Giuseppe
Mumford, Andrew
Heller, Paula Graciela
Noris, Patrizia
de Groot, Marco R.
Giani, Marisa
Freddi, Paolo
Scognamiglio, Francesca
Riondino, Silvia
Pujol Moix, Núria
Fabris, Fabrizio
Seri, Marco
Balduini, Carlo L.
Pecci, Alessandro
author2_role author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
author
dc.subject.none.fl_str_mv Myh9-Related Diseases
Thrombocytopenia
Giant Platelets
Myh9 Gene
Neutrophil Inclusions
topic Myh9-Related Diseases
Thrombocytopenia
Giant Platelets
Myh9 Gene
Neutrophil Inclusions
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9 -RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9 -RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9 -RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9 -RD.
Fil: Savoia, Anna. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; Italia
Fil: de Rocco, Daniela. Universita Degli Studi Di Trieste; Italia. Italian Registry for MYH9-Related Disease; Italia
Fil: Panza, Emanuele. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; Italia
Fil: Bozzi, Valeria. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
Fil: Scandellari, Raffaella. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; Italia
Fil: Loffredo, Giuseppe. Italian Registry for MYH9-Related Disease; Italia. Pausilipon Hospital; Italia
Fil: Mumford, Andrew. University of Bristol; Reino Unido
Fil: Heller, Paula Graciela. Italian Registry for MYH9-Related Disease; Italia. 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: Noris, Patrizia. Italian Registry for MYH9-Related Disease; Italia
Fil: de Groot, Marco R.. University of Bristol; Reino Unido
Fil: Giani, Marisa. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia
Fil: Freddi, Paolo. Italian Registry for MYH9-Related Disease; Italia
Fil: Scognamiglio, Francesca. Italian Registry for MYH9-Related Disease; Italia
Fil: Riondino, Silvia. Italian Registry for MYH9-Related Disease; Italia. Istituto di Ricovero e Cura a Carattere Scientifico; Italia
Fil: Pujol Moix, Núria. Universitat Autonoma de Barcelona; España
Fil: Fabris, Fabrizio. Italian Registry for MYH9-Related Disease; Italia. Universita Di Padova; Italia
Fil: Seri, Marco. Italian Registry for MYH9-Related Disease; Italia. Universita Di Bologna; Italia
Fil: Balduini, Carlo L.. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
Fil: Pecci, Alessandro. Italian Registry for MYH9-Related Disease; Italia. University of Pavia; Italia
description MYH9 -related disease ( MYH9 -RD) is an autosomal dominant thrombocytopenia with giant platelets variably associated with young-adult onset of progressive sensorineural hearing loss, presenile cataract, and renal damage. MYH9 -RD is caused by mutations of MYH9 , the gene encoding for non-muscle heavy-chain myosin-9. Wild-type and mutant myosin-9 aggregate as cytoplasmic inclusions in patients’ leukocytes, the identification of which by immunofluorescence has been proposed as a suitable tool for the diagnosis of MYH9 -RD. Since the predictive value of this assay, in terms of sensitivity and specificity, is unknown, we investigated 118 consecutive unrelated patients with a clinical presentation strongly consistent with MYH9 -RD. All patients prospectively underwent both the immunofluorescence assay for myosin-9 aggregate detection and molecular genetic analysis of the MYH9 gene. Myosin-9 aggregates were identified in 82 patients, 80 of which (98%) had also a MYH9 mutation. In the remaining 36 patients neither myosin-9 aggregates nor MYH9 mutations were found. Sensitivity and specificity of the immunofluorescence assay was evaluated to be 100% and 95%, respectively. Except for the presence of aggregates, we did not find any other significant difference between patients with or without aggregates, demonstrating that the myosin-9 inclusions in neutrophils are a pathognomonic sign of the disease. However, the identification of the specific MYH9 mutation is still of importance for prognostic aspects of MYH9 -RD.
publishDate 2010
dc.date.none.fl_str_mv 2010-03
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/11336/15532
Savoia, Anna; de Rocco, Daniela; Panza, Emanuele; Bozzi, Valeria; Scandellari, Raffaella; et al.; Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder; Schattauer Gmbh-verlag Medizin Naturwissenschaften; Thrombosis And Haemostasis; 103; 4; 3-2010; 683-873
0340-6245
url http://hdl.handle.net/11336/15532
identifier_str_mv Savoia, Anna; de Rocco, Daniela; Panza, Emanuele; Bozzi, Valeria; Scandellari, Raffaella; et al.; Heavy chain myosin 9-related disease (MYH9-RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder; Schattauer Gmbh-verlag Medizin Naturwissenschaften; Thrombosis And Haemostasis; 103; 4; 3-2010; 683-873
0340-6245
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1160/TH09-08-0593
info:eu-repo/semantics/altIdentifier/url/https://th.schattauer.de/contents/archive/issue/1059/manuscript/12714.html
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
dc.publisher.none.fl_str_mv Schattauer Gmbh-verlag Medizin Naturwissenschaften
publisher.none.fl_str_mv Schattauer Gmbh-verlag Medizin Naturwissenschaften
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
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