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.

Publication DOI: https://doi.org/10.1136/jmg-2023-109438
Divisions: College of Health & Life Sciences > School of Psychology
Aston University (General)
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 © 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.
Uncontrolled Keywords: Genetic Diseases, Inborn,Genetics, Medical,Mental Disorders,Phenotype,Genetics(clinical),Genetics
Publication ISSN: 1468-6244
Last Modified: 02 Dec 2024 09:05
Date Deposited: 05 Apr 2024 11:59
Full Text Link:
Related URLs: https://jmg.bmj ... jmg-2023-109438 (Publisher URL)
http://www.scop ... tnerID=8YFLogxK (Scopus URL)
PURE Output Type: Article
Published Date: 2024-06-01
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 (ORCID Profile 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.

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