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

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

doi:10.1136/jmg-2023-109438

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

Didier Lacombe
, Agnès Bloch-Zupan
, Cecilie Bredrup
, Edward B. Cooper
, Sofia Douzgou Houge
, Sixto García-Miñaúr
, Hülya Kayserili
, Lidia Larizza
, Vanesa Lopez Gonzalez
, Leonie A. Menke
, Donatella Milani
, Francesco Saettini
, Cathy A. Stevens
, Lloyd Tooke
, Jill A. Van der Zee
, Maria M. Van Genderen
, Julien Van-Gils
, Jane Waite
, Jean-Louis Adrien
, Oliver Bartsch

Pierre Bitoun, Antonia H. M. Bouts, Anna M. Cueto-González, Elena Dominguez-Garrido, Floor A. Duijkers, Patricia Fergelot, Elisabeth Halstead, Sylvia A. Huisman, Camilla Meossi, Jo Mullins, Sarah M. Nikkel, Chris Oliver, Elisabetta Prada, Alessandra Rei, Ilka Riddle, Cristina Rodriguez-Fonseca, Rebecca Rodríguez Pena, Janet Russell, Alicia Saba, Fernando Santos-Simarro, Brittany N. Simpson, David F. Smith, Markus F. Stevens, Katalin Szakszon, Emmanuelle Taupiac, Nadia Totaro, Irene Valenzuena Palafoll, Daniëlle C. M. Van Der Kaay, Michiel P. Van Wijk, Klea Vyshka, Susan Wiley, Raoul C. Hennekam

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Abstract

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.

Original language	English
Pages (from-to)	503-519
Number of pages	17
Journal	Journal of Medical Genetics
Volume	61
Issue number	6
Early online date	12 Mar 2024
DOIs	https://doi.org/10.1136/jmg-2023-109438
Publication status	Published - 1 Jun 2024

Bibliographical note

Funding

This publication has been supported by the European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability (ERN-ITHACA). ERN-ITHACA is partly co-funded by the Health Program of the European Union.

Funders
ERN-Ithaca
European Commission

Keywords

Genetic Diseases, Inborn
Genetics, Medical
Mental Disorders
Phenotype

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10.1136/jmg-2023-109438

Lacombe_RTSguidelines_Recommendations_final
Copyright © Authors (or their employer(s)), 2024. Published by BMJ. Reuse of this manuscript version (excluding any databases, tables, diagrams, photographs and other images or illustrative material included where another copyright owner is identified) is permitted strictly pursuant to the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/). This article has been accepted for publication in the Journal of Medical Genetics, 2024 following peer review, and the Version of Record can be accessed online at https://doi.org/10.1136/jmg-2023-109438.
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Diagnosis and management in Rubinstein-Taybi syndrome_first international consensus statement
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Cite this

Lacombe, D., Bloch-Zupan, A., Bredrup, C., Cooper, E. B., Houge, S. D., García-Miñaúr, S., Kayserili, H., Larizza, L., Lopez Gonzalez, V., Menke, L. A., Milani, D., Saettini, F., Stevens, C. A., Tooke, L., Van der Zee, J. A., Van Genderen, M. M., Van-Gils, J., Waite, J., Adrien, J.-L., ... Hennekam, R. C. (2024). Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of Medical Genetics, 61(6), 503-519. https://doi.org/10.1136/jmg-2023-109438

@article{ecdb50548bae436181f2463312ce4ee3,

title = "Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement",

abstract = "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.",

keywords = "Genetic Diseases, Inborn, Genetics, Medical, Mental Disorders, Phenotype",

author = "Didier Lacombe and Agn{\`e}s Bloch-Zupan and Cecilie Bredrup and Cooper, \{Edward B.\} and Houge, \{Sofia Douzgou\} and Sixto Garc{\'i}a-Mi{\~n}a{\'u}r and H{\"u}lya Kayserili and Lidia Larizza and \{Lopez Gonzalez\}, Vanesa and Menke, \{Leonie A.\} and Donatella Milani and Francesco Saettini and Stevens, \{Cathy A.\} and Lloyd Tooke and \{Van der Zee\}, \{Jill A.\} and \{Van Genderen\}, \{Maria M.\} and Julien Van-Gils and Jane Waite and Jean-Louis Adrien and Oliver Bartsch and Pierre Bitoun and Bouts, \{Antonia H. M.\} and Cueto-Gonz{\'a}lez, \{Anna M.\} and Elena Dominguez-Garrido and Duijkers, \{Floor A.\} and Patricia Fergelot and Elisabeth Halstead and Huisman, \{Sylvia A.\} and Camilla Meossi and Jo Mullins and Nikkel, \{Sarah M.\} and Chris Oliver and Elisabetta Prada and Alessandra Rei and Ilka Riddle and Cristina Rodriguez-Fonseca and \{Rodr{\'i}guez Pena\}, Rebecca and Janet Russell and Alicia Saba and Fernando Santos-Simarro and Simpson, \{Brittany N.\} and Smith, \{David F.\} and Stevens, \{Markus F.\} and Katalin Szakszon and Emmanuelle Taupiac and Nadia Totaro and \{Valenzuena Palafoll\}, Irene and \{Van Der Kaay\}, \{Dani{\"e}lle C. M.\} and \{Van Wijk\}, \{Michiel P.\} and Klea Vyshka and Susan Wiley and Hennekam, \{Raoul C.\}",

note = "Copyright {\textcopyright} Author(s) (or their employer(s)), 2024. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. ",

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doi = "10.1136/jmg-2023-109438",

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Lacombe, D, Bloch-Zupan, A, Bredrup, C, Cooper, EB, Houge, SD, García-Miñaúr, S, Kayserili, H, Larizza, L, Lopez Gonzalez, V, Menke, LA, Milani, D, Saettini, F, Stevens, CA, Tooke, L, Van der Zee, JA, Van Genderen, MM, Van-Gils, J, Waite, J, Adrien, J-L, Bartsch, O, Bitoun, P, Bouts, AHM, Cueto-González, AM, Dominguez-Garrido, E, Duijkers, FA, Fergelot, P, Halstead, E, Huisman, SA, Meossi, C, Mullins, J, Nikkel, SM, Oliver, C, Prada, E, Rei, A, Riddle, I, Rodriguez-Fonseca, C, Rodríguez Pena, R, Russell, J, Saba, A, Santos-Simarro, F, Simpson, BN, Smith, DF, Stevens, MF, Szakszon, K, Taupiac, E, Totaro, N, Valenzuena Palafoll, I, Van Der Kaay, DCM, Van Wijk, MP, Vyshka, K, Wiley, S & Hennekam, RC 2024, 'Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement', Journal of Medical Genetics, vol. 61, no. 6, pp. 503-519. https://doi.org/10.1136/jmg-2023-109438

TY - JOUR

T1 - Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

AU - Lacombe, Didier

AU - Bloch-Zupan, Agnès

AU - Bredrup, Cecilie

AU - Cooper, Edward B.

AU - Houge, Sofia Douzgou

AU - García-Miñaúr, Sixto

AU - Kayserili, Hülya

AU - Larizza, Lidia

AU - Lopez Gonzalez, Vanesa

AU - Menke, Leonie A.

AU - Milani, Donatella

AU - Saettini, Francesco

AU - Stevens, Cathy A.

AU - Tooke, Lloyd

AU - Van der Zee, Jill A.

AU - Van Genderen, Maria M.

AU - Van-Gils, Julien

AU - Waite, Jane

AU - Adrien, Jean-Louis

AU - Bartsch, Oliver

AU - Bitoun, Pierre

AU - Bouts, Antonia H. M.

AU - Cueto-González, Anna M.

AU - Dominguez-Garrido, Elena

AU - Duijkers, Floor A.

AU - Fergelot, Patricia

AU - Halstead, Elisabeth

AU - Huisman, Sylvia A.

AU - Meossi, Camilla

AU - Mullins, Jo

AU - Nikkel, Sarah M.

AU - Oliver, Chris

AU - Prada, Elisabetta

AU - Rei, Alessandra

AU - Riddle, Ilka

AU - Rodriguez-Fonseca, Cristina

AU - Rodríguez Pena, Rebecca

AU - Russell, Janet

AU - Saba, Alicia

AU - Santos-Simarro, Fernando

AU - Simpson, Brittany N.

AU - Smith, David F.

AU - Stevens, Markus F.

AU - Szakszon, Katalin

AU - Taupiac, Emmanuelle

AU - Totaro, Nadia

AU - Valenzuena Palafoll, Irene

AU - Van Der Kaay, Daniëlle C. M.

AU - Van Wijk, Michiel P.

AU - Vyshka, Klea

AU - Wiley, Susan

AU - Hennekam, Raoul C.

PY - 2024/6/1

Y1 - 2024/6/1

N2 - 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.

AB - 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.

KW - Genetic Diseases, Inborn

KW - Genetics, Medical

KW - Mental Disorders

KW - Phenotype

UR - https://jmg.bmj.com/content/early/2024/03/26/jmg-2023-109438

UR - https://www.scopus.com/pages/publications/85188468637

U2 - 10.1136/jmg-2023-109438

DO - 10.1136/jmg-2023-109438

M3 - Article

C2 - 38471765

SN - 0022-2593

VL - 61

SP - 503

EP - 519

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -

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

Abstract

Bibliographical note

Funding

Keywords

Access to Document

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