Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Lacombe, Didier; Bloch-Zupan, Agnès; Bredrup, Cecilie; Cooper, Edward B; Houge, Sofia Douzgou; García-Miñaúr, Sixto; Kayserili, Hülya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie A; Milani, Donatella; Saettini, Francesco; Stevens, Cathy A; Tooke, Lloyd; Van der Zee, Jill A; Van Genderen, Maria M; Van-Gils, Julien; Waite, Jane; Adrien, Jean-Louis; Bartsch, Oliver; Bitoun, Pierre; Bouts, Antonia H M; Cueto-González, Anna M; Domínguez-Garrido, Elena; Duijkers, Floor A; Fergelot, Patricia; Halstead, Elizabeth; Huisman, Sylvia A; Meossi, Camilla; Mullins, Jo; Nikkel, Sarah M; Oliver, Chris; Prada, Elisabetta; Rei, Alessandra; Riddle, Ilka; Rodriguez-Fonseca, Cristina; Rodríguez Pena, Rebecca; Russell, Janet; Saba, Alicia; Santos-Simarro, Fernando; Simpson, Brittany N; Smith, David; Stevens, Markus F; Szakszon, Katalin; Taupiac, Emmanuelle; Totaro, Nadia; Valenzuena Palafoll, Irene; Van Der Kaay, Daniëlle C M; Van Wijk, Michiel P; Vyshka, Klea; Wiley, Susan; Hennekam, Raoul C

Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) whic...

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Autores:	Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B, Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A, Milani, Donatella, Saettini, Francesco, Stevens, Cathy A, Tooke, Lloyd, Van der Zee, Jill A, Van Genderen, Maria M, Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H M, Cueto-González, Anna M, Domínguez-Garrido, Elena, Duijkers, Floor A, Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A, Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M, Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N, Smith, David, Stevens, Markus F, Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C M, Van Wijk, Michiel P, Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C
Tipo de recurso:	artículo
Fecha de publicación:	2024
País:	España
Institución:	Conselleria de Salut i Consum del Govern de les Illes Balears
Repositorio:	Docusalut
Idioma:	inglés
OAI Identifier:	oai:docusalut.com:20.500.13003/20758
Acceso en línea:	https://hdl.handle.net/20.500.13003/20758
Access Level:	acceso abierto
Palabra clave:	Rubinstein-Taybi Syndrome Mutation Humans CREB-Binding Protein E1A-Associated p300 Protein Consensus Disease Management Consenso Manejo de la Enfermedad Síndrome de Rubinstein-Taybi Humanos Proteína de Unión a CREB Proteína p300 Asociada a E1A Mutación

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network_acronym_str	ES
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spelling	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statementLacombe, DidierBloch-Zupan, AgnèsBredrup, CecilieCooper, Edward BHouge, Sofia DouzgouGarcía-Miñaúr, SixtoKayserili, HülyaLarizza, LidiaLopez Gonzalez, VanesaMenke, Leonie AMilani, DonatellaSaettini, FrancescoStevens, Cathy ATooke, LloydVan der Zee, Jill AVan Genderen, Maria MVan-Gils, JulienWaite, JaneAdrien, Jean-LouisBartsch, OliverBitoun, PierreBouts, Antonia H MCueto-González, Anna MDomínguez-Garrido, ElenaDuijkers, Floor AFergelot, PatriciaHalstead, ElizabethHuisman, Sylvia AMeossi, CamillaMullins, JoNikkel, Sarah MOliver, ChrisPrada, ElisabettaRei, AlessandraRiddle, IlkaRodriguez-Fonseca, CristinaRodríguez Pena, RebeccaRussell, JanetSaba, AliciaSantos-Simarro, FernandoSimpson, Brittany NSmith, DavidStevens, Markus FSzakszon, KatalinTaupiac, EmmanuelleTotaro, NadiaValenzuena Palafoll, IreneVan Der Kaay, Daniëlle C MVan Wijk, Michiel PVyshka, KleaWiley, SusanHennekam, Raoul CRubinstein-Taybi SyndromeMutationHumansCREB-Binding ProteinE1A-Associated p300 ProteinConsensusDisease ManagementConsensoManejo de la EnfermedadSíndrome de Rubinstein-TaybiHumanosProteína de Unión a CREBProteína p300 Asociada a E1AMutaciónRubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.BMJ20242024-05-2120242024-05-21research articlehttp://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleapplication/pdfhttps://hdl.handle.net/20.500.13003/20758reponame:Docusalutinstname:Conselleria de Salut i Consum del Govern de les Illes BalearsInglésengopen accesshttp://purl.org/coar/access_right/c_abf2Atribución-NoComercial 4.0 Internacionalhttp://creativecommons.org/licenses/by-nc/4.0/info:eu-repo/semantics/openAccessoai:docusalut.com:20.500.13003/207582026-06-22T12:44:07Z
dc.title.none.fl_str_mv	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
title	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
spellingShingle	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement Lacombe, Didier Rubinstein-Taybi Syndrome Mutation Humans CREB-Binding Protein E1A-Associated p300 Protein Consensus Disease Management Consenso Manejo de la Enfermedad Síndrome de Rubinstein-Taybi Humanos Proteína de Unión a CREB Proteína p300 Asociada a E1A Mutación
title_short	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
title_full	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
title_fullStr	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
title_full_unstemmed	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
title_sort	Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement
dc.creator.none.fl_str_mv	Lacombe, Didier Bloch-Zupan, Agnès Bredrup, Cecilie Cooper, Edward B Houge, Sofia Douzgou García-Miñaúr, Sixto Kayserili, Hülya Larizza, Lidia Lopez Gonzalez, Vanesa Menke, Leonie A Milani, Donatella Saettini, Francesco Stevens, Cathy A Tooke, Lloyd Van der Zee, Jill A Van Genderen, Maria M Van-Gils, Julien Waite, Jane Adrien, Jean-Louis Bartsch, Oliver Bitoun, Pierre Bouts, Antonia H M Cueto-González, Anna M Domínguez-Garrido, Elena Duijkers, Floor A Fergelot, Patricia Halstead, Elizabeth Huisman, Sylvia A Meossi, Camilla Mullins, Jo Nikkel, Sarah M Oliver, Chris Prada, Elisabetta Rei, Alessandra Riddle, Ilka Rodriguez-Fonseca, Cristina Rodríguez Pena, Rebecca Russell, Janet Saba, Alicia Santos-Simarro, Fernando Simpson, Brittany N Smith, David Stevens, Markus F Szakszon, Katalin Taupiac, Emmanuelle Totaro, Nadia Valenzuena Palafoll, Irene Van Der Kaay, Daniëlle C M Van Wijk, Michiel P Vyshka, Klea Wiley, Susan Hennekam, Raoul C
author	Lacombe, Didier
author_facet	Lacombe, Didier Bloch-Zupan, Agnès Bredrup, Cecilie Cooper, Edward B Houge, Sofia Douzgou García-Miñaúr, Sixto Kayserili, Hülya Larizza, Lidia Lopez Gonzalez, Vanesa Menke, Leonie A Milani, Donatella Saettini, Francesco Stevens, Cathy A Tooke, Lloyd Van der Zee, Jill A Van Genderen, Maria M Van-Gils, Julien Waite, Jane Adrien, Jean-Louis Bartsch, Oliver Bitoun, Pierre Bouts, Antonia H M Cueto-González, Anna M Domínguez-Garrido, Elena Duijkers, Floor A Fergelot, Patricia Halstead, Elizabeth Huisman, Sylvia A Meossi, Camilla Mullins, Jo Nikkel, Sarah M Oliver, Chris Prada, Elisabetta Rei, Alessandra Riddle, Ilka Rodriguez-Fonseca, Cristina Rodríguez Pena, Rebecca Russell, Janet Saba, Alicia Santos-Simarro, Fernando Simpson, Brittany N Smith, David Stevens, Markus F Szakszon, Katalin Taupiac, Emmanuelle Totaro, Nadia Valenzuena Palafoll, Irene Van Der Kaay, Daniëlle C M Van Wijk, Michiel P Vyshka, Klea Wiley, Susan Hennekam, Raoul C
author_role	author
author2	Bloch-Zupan, Agnès Bredrup, Cecilie Cooper, Edward B Houge, Sofia Douzgou García-Miñaúr, Sixto Kayserili, Hülya Larizza, Lidia Lopez Gonzalez, Vanesa Menke, Leonie A Milani, Donatella Saettini, Francesco Stevens, Cathy A Tooke, Lloyd Van der Zee, Jill A Van Genderen, Maria M Van-Gils, Julien Waite, Jane Adrien, Jean-Louis Bartsch, Oliver Bitoun, Pierre Bouts, Antonia H M Cueto-González, Anna M Domínguez-Garrido, Elena Duijkers, Floor A Fergelot, Patricia Halstead, Elizabeth Huisman, Sylvia A Meossi, Camilla Mullins, Jo Nikkel, Sarah M Oliver, Chris Prada, Elisabetta Rei, Alessandra Riddle, Ilka Rodriguez-Fonseca, Cristina Rodríguez Pena, Rebecca Russell, Janet Saba, Alicia Santos-Simarro, Fernando Simpson, Brittany N Smith, David Stevens, Markus F Szakszon, Katalin Taupiac, Emmanuelle Totaro, Nadia Valenzuena Palafoll, Irene Van Der Kaay, Daniëlle C M Van Wijk, Michiel P Vyshka, Klea Wiley, Susan Hennekam, Raoul C
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 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 author
dc.contributor.none.fl_str_mv
dc.subject.none.fl_str_mv	Rubinstein-Taybi Syndrome Mutation Humans CREB-Binding Protein E1A-Associated p300 Protein Consensus Disease Management Consenso Manejo de la Enfermedad Síndrome de Rubinstein-Taybi Humanos Proteína de Unión a CREB Proteína p300 Asociada a E1A Mutación
topic	Rubinstein-Taybi Syndrome Mutation Humans CREB-Binding Protein E1A-Associated p300 Protein Consensus Disease Management Consenso Manejo de la Enfermedad Síndrome de Rubinstein-Taybi Humanos Proteína de Unión a CREB Proteína p300 Asociada a E1A Mutación
description	Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.
publishDate	2024
dc.date.none.fl_str_mv	2024 2024-05-21 2024 2024-05-21
dc.type.none.fl_str_mv	research article http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.openaire.fl_str_mv	info:eu-repo/semantics/article
format	article
dc.identifier.none.fl_str_mv	https://hdl.handle.net/20.500.13003/20758
url	https://hdl.handle.net/20.500.13003/20758
dc.language.none.fl_str_mv	Inglés eng
language_invalid_str_mv	Inglés
language	eng
dc.rights.none.fl_str_mv	open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/
dc.rights.openaire.fl_str_mv	info:eu-repo/semantics/openAccess
rights_invalid_str_mv	open access http://purl.org/coar/access_right/c_abf2 Atribución-NoComercial 4.0 Internacional http://creativecommons.org/licenses/by-nc/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	BMJ
publisher.none.fl_str_mv	BMJ
dc.source.none.fl_str_mv	reponame:Docusalut instname:Conselleria de Salut i Consum del Govern de les Illes Balears
instname_str	Conselleria de Salut i Consum del Govern de les Illes Balears
reponame_str	Docusalut
collection	Docusalut
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repository.mail.fl_str_mv
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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

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