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

doi:10.1136/jmg-2023-109438

Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]

BLOCH-ZUPAN, Agnès

BREDRUP, Cecilie

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Article de revue

Ce document a été publié dans

Journal of Medical Genetics. 2024-05-21, vol. 61, n° 6, p. 503-519

Résumé en anglais

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 (, ) 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: ; RTS2: ), 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.< Réduire

Mots clés en anglais

Rubinstein-Taybi Syndrome

Humans

CREB-Binding Protein

E1A-Associated p300 Protein

Consensus

Disease Management

Mutation

URI

https://oskar-bordeaux.fr/handle/20.500.12278/200959

DOI

http://dx.doi.org/10.1136/jmg-2023-109438

Unités de recherche

Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211

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

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Mots clés en anglais

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