Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease

MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, p...

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Autores: Pecci, Alessandro, Panza, Emanuele, Pujol Moix, Núria, Klersy, Catherine, Di Bari, Filomena, Bozzi, Valeria, Gresele, Paolo, Lethagen, Stefan, Fabris, Fabrizio, Dufour, Carlo, Granata, Antonio, Doubek, Michael, Pecoraro, Carmine, Koivisto, Pasi A., Heller, Paula Graciela, Iolascon, Achille, Alvisi, Patrizia, Schwabe, Dirk, De Candia, Erica, Rocca, Bianca, Russo, Umberto, Ramenghi, Ugo, Noris, Patrizia, Seri, Marco, Balduini, Carlo L., Savoia, Anna
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2008
País:Argentina
Institución:Consejo Nacional de Investigaciones Científicas y Técnicas
Repositorio:CONICET Digital (CONICET)
Idioma:inglés
OAI Identifier:oai:ri.conicet.gov.ar:11336/105263
Acceso en línea:http://hdl.handle.net/11336/105263
Access Level:acceso abierto
Palabra clave:MYH9 GENE
INHERITED THROMBOCYTOPENIA
MYH9-RELATED DISEASE
MUTATION
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
id AR_97b97739e5bbbe4189ae4d2ba314aa39
oai_identifier_str oai:ri.conicet.gov.ar:11336/105263
network_acronym_str AR
network_name_str Argentina
repository_id_str
dc.title.none.fl_str_mv Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
title Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
spellingShingle Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
Pecci, Alessandro
MYH9 GENE
INHERITED THROMBOCYTOPENIA
MYH9-RELATED DISEASE
MUTATION
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
title_short Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
title_full Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
title_fullStr Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
title_full_unstemmed Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
title_sort Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease
dc.creator.none.fl_str_mv Pecci, Alessandro
Panza, Emanuele
Pujol Moix, Núria
Klersy, Catherine
Di Bari, Filomena
Bozzi, Valeria
Gresele, Paolo
Lethagen, Stefan
Fabris, Fabrizio
Dufour, Carlo
Granata, Antonio
Doubek, Michael
Pecoraro, Carmine
Koivisto, Pasi A.
Heller, Paula Graciela
Iolascon, Achille
Alvisi, Patrizia
Schwabe, Dirk
De Candia, Erica
Rocca, Bianca
Russo, Umberto
Ramenghi, Ugo
Noris, Patrizia
Seri, Marco
Balduini, Carlo L.
Savoia, Anna
author Pecci, Alessandro
author_facet Pecci, Alessandro
Panza, Emanuele
Pujol Moix, Núria
Klersy, Catherine
Di Bari, Filomena
Bozzi, Valeria
Gresele, Paolo
Lethagen, Stefan
Fabris, Fabrizio
Dufour, Carlo
Granata, Antonio
Doubek, Michael
Pecoraro, Carmine
Koivisto, Pasi A.
Heller, Paula Graciela
Iolascon, Achille
Alvisi, Patrizia
Schwabe, Dirk
De Candia, Erica
Rocca, Bianca
Russo, Umberto
Ramenghi, Ugo
Noris, Patrizia
Seri, Marco
Balduini, Carlo L.
Savoia, Anna
author_role author
author2 Panza, Emanuele
Pujol Moix, Núria
Klersy, Catherine
Di Bari, Filomena
Bozzi, Valeria
Gresele, Paolo
Lethagen, Stefan
Fabris, Fabrizio
Dufour, Carlo
Granata, Antonio
Doubek, Michael
Pecoraro, Carmine
Koivisto, Pasi A.
Heller, Paula Graciela
Iolascon, Achille
Alvisi, Patrizia
Schwabe, Dirk
De Candia, Erica
Rocca, Bianca
Russo, Umberto
Ramenghi, Ugo
Noris, Patrizia
Seri, Marco
Balduini, Carlo L.
Savoia, Anna
author2_role author
author
author
author
author
author
author
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 GENE
INHERITED THROMBOCYTOPENIA
MYH9-RELATED DISEASE
MUTATION
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
topic MYH9 GENE
INHERITED THROMBOCYTOPENIA
MYH9-RELATED DISEASE
MUTATION
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
description MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between the 27 different MYH9 mutations identified so far and the variable clinical evolution of the disease.We have evaluated 108 consecutive MYH9- RD patients belonging to 50 unrelated pedigrees. The risk of noncongenital manifestations associated with different genotypes was estimated over time by event-free survival analysis.We demonstrated that all subjects with mutations in the motor domain of NMMHC-IIA present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. We also evaluated the clinical course of patients with mutations in the four most frequently affected residues of NMMHC-IIA (responsible for 70% of MYH9-RD cases).We concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures. These findings are relevant not only to patients’ clinical management but also to the elucidation of the pathogenesis of the disease.
publishDate 2008
dc.date.none.fl_str_mv 2008-03
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/11336/105263
Pecci, Alessandro; Panza, Emanuele; Pujol Moix, Núria; Klersy, Catherine; Di Bari, Filomena; et al.; Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease; Wiley-liss, Div John Wiley & Sons Inc; Human Mutation; 29; 3; 3-2008; 409-417
1059-7794
CONICET Digital
CONICET
url http://hdl.handle.net/11336/105263
identifier_str_mv Pecci, Alessandro; Panza, Emanuele; Pujol Moix, Núria; Klersy, Catherine; Di Bari, Filomena; et al.; Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease; Wiley-liss, Div John Wiley & Sons Inc; Human Mutation; 29; 3; 3-2008; 409-417
1059-7794
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://onlinelibrary.wiley.com/doi/abs/10.1002/humu.20661
info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.20661
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 Wiley-liss, Div John Wiley & Sons Inc
publisher.none.fl_str_mv Wiley-liss, Div John Wiley & Sons Inc
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
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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spelling Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related diseasePecci, AlessandroPanza, EmanuelePujol Moix, NúriaKlersy, CatherineDi Bari, FilomenaBozzi, ValeriaGresele, PaoloLethagen, StefanFabris, FabrizioDufour, CarloGranata, AntonioDoubek, MichaelPecoraro, CarmineKoivisto, Pasi A.Heller, Paula GracielaIolascon, AchilleAlvisi, PatriziaSchwabe, DirkDe Candia, EricaRocca, BiancaRusso, UmbertoRamenghi, UgoNoris, PatriziaSeri, MarcoBalduini, Carlo L.Savoia, AnnaMYH9 GENEINHERITED THROMBOCYTOPENIAMYH9-RELATED DISEASEMUTATIONhttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3MYH9-related disease (MYH9-RD) is a rare autosomal-dominant disorder caused by mutations in MYH9, the gene for the heavy chain of nonmuscle myosin IIA (NMMHC-IIA). All patients present from birth with macrothrombocytopenia, but in infancy or adult life, some of them develop sensorineural deafness, presenile cataracts, and/or progressive nephritis leading to end-stage renal failure. No consistent correlations have been identified between the 27 different MYH9 mutations identified so far and the variable clinical evolution of the disease.We have evaluated 108 consecutive MYH9- RD patients belonging to 50 unrelated pedigrees. The risk of noncongenital manifestations associated with different genotypes was estimated over time by event-free survival analysis.We demonstrated that all subjects with mutations in the motor domain of NMMHC-IIA present with severe thrombocytopenia and develop nephritis and deafness before the age of 40 years, while those with mutations in the tail domain have a much lower risk of noncongenital complications and significantly higher platelet counts. We also evaluated the clinical course of patients with mutations in the four most frequently affected residues of NMMHC-IIA (responsible for 70% of MYH9-RD cases).We concluded that mutations at residue 1933 do not induce kidney damage or cataracts and cause deafness only in the elderly, those in position 702 result in severe thrombocytopenia and produce nephritis and deafness at a juvenile age, while alterations at residue 1424 or 1841 result in intermediate clinical pictures. These findings are relevant not only to patients’ clinical management but also to the elucidation of the pathogenesis of the disease.Fil: Pecci, Alessandro. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Panza, Emanuele. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Universidad de Bologna; ItaliaFil: Pujol Moix, Núria. Hospital de la Santa Creu i Sant Pau; EspañaFil: Klersy, Catherine. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Di Bari, Filomena. Telethon Institute of Genetics and Medicine; ItaliaFil: Bozzi, Valeria. Universita Degli Studi Di Pavia; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Gresele, Paolo. Università di Perugia; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Lethagen, Stefan. Universidad de Copenhagen; Dinamarca. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Fabris, Fabrizio. Università di Padova; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Dufour, Carlo. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Granata, Antonio. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Policlinico "Vittorio Emanuele"; ItaliaFil: Doubek, Michael. University Hospital; República ChecaFil: Pecoraro, Carmine. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. ‘‘Santobono’’ Children’s Hospital; ItaliaFil: Koivisto, Pasi A.. Tampere University Hospital; FinlandiaFil: 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: Iolascon, Achille. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Università degli Studi di Napoli Federico II; ItaliaFil: Alvisi, Patrizia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Ospedale Maggiore Carlo Alberto Pizzardi; ItaliaFil: Schwabe, Dirk. Goethe Universitat Frankfurt; AlemaniaFil: De Candia, Erica. Università degli studi di Roma "La Sapienza"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Rocca, Bianca. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Università degli studi di Roma "La Sapienza"; ItaliaFil: Russo, Umberto. Ospedale Luigi Sacco; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Ramenghi, Ugo. Università degli studi di Torino; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Noris, Patrizia. Universita Degli Studi Di Pavia; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; ItaliaFil: Seri, Marco. Universidad de Bologna; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaFil: Balduini, Carlo L.. Universita Degli Studi Di Pavia; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; Italia. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; ItaliaFil: Savoia, Anna. Istituto Nazionale di Ricovero e Cura a Carattere Scientifico "Saverio de Bellis"; Italia. IRCCS Policlinico San Matteo Foundation. Italian Registry for MYH9-Related Disease; ItaliaWiley-liss, Div John Wiley & Sons Inc2008-03info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/105263Pecci, Alessandro; Panza, Emanuele; Pujol Moix, Núria; Klersy, Catherine; Di Bari, Filomena; et al.; Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history ofMYH9-related disease; Wiley-liss, Div John Wiley & Sons Inc; Human Mutation; 29; 3; 3-2008; 409-4171059-7794CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.20661info:eu-repo/semantics/altIdentifier/doi/10.1002/humu.20661info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2024-05-08T14:06:22Zoai:ri.conicet.gov.ar:11336/105263instacron: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:34982024-05-08 14:06:23.129CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
score 15,811543

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