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

• Published in: Journal of medical genetics Vol. 61; no. 6; pp. 503 - 519
• Main 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, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H M, Cueto-González, Anna M, Dominguez-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 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
• Format: Journal Article
• Language: English
• Published: England BMJ Publishing Group Ltd 01.06.2024; BMJ Publishing Group LTD
• Subjects: Acetylation; Autism; Caregivers; Clinical guidelines; Consensus; CREB-Binding Protein - genetics; Disease Management; E1A-Associated p300 Protein - genetics; Gene regulation; Genetic Diseases, Inborn; Genetics, Medical; Genotype & phenotype; Histones; Humans; Intellectual disabilities; Mental Disorders; Microcephaly; Mutation; Phenotype; Preeclampsia; Rubinstein-Taybi Syndrome - diagnosis; Rubinstein-Taybi Syndrome - genetics; Rubinstein-Taybi Syndrome - therapy; Genetic Diseases, Inborn; Phenotype; Genetics, Medical; Mental Disorders
• ISSN: 0022-2593; 1468-6244
• DOI: 10.1136/jmg-2023-109438

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.