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., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, 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 F., 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 and Hennekam, Raoul C. (2024). Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement. Journal of Medical Genetics ,

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.

Publication DOI:	https://doi.org/10.1136/jmg-2023-109438
Divisions:	College of Health & Life Sciences > School of Psychology
Funding Information:	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.
Additional Information:	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.
Publication ISSN:	1468-6244
Last Modified:	03 May 2024 07:24
Date Deposited:	05 Apr 2024 11:59
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Related URLs:	https://jmg.bmj ... jmg-2023-109438 (Publisher URL) http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type:	Article
Published Date:	2024-03-12
Published Online Date:	2024-03-12
Accepted Date:	2024-02-15
Authors:	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 ( 0000-0002-8676-3070) Adrien, Jean-Louis Bartsch, Oliver Bitoun, Pierre Bouts, Antonia H. M. Cueto-González, Anna M. Dominguez-Garrido, Elena Duijkers, Floor A. Fergelot, Patricia Halstead, Elisabeth 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 F. 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.