TY - JOUR
T1 - Diagnosis and management in Rubinstein-Taybi syndrome
T2 - 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, Elizabeth
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.
N1 - Publisher Copyright:
© 2024 BMJ Publishing Group. All rights reserved.
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 - http://www.scopus.com/inward/record.url?scp=85188468637&partnerID=8YFLogxK
U2 - 10.1136/jmg-2023-109438
DO - 10.1136/jmg-2023-109438
M3 - Article
C2 - 38471765
AN - SCOPUS:85188468637
SN - 0022-2593
VL - 61
SP - 503
EP - 519
JO - Journal of Medical Genetics
JF - Journal of Medical Genetics
IS - 6
ER -