Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

• Published in: Journal of pediatric genetics (Birmingham, Ala.) Vol. 4; no. 3; pp. 177 - 186
• Main Authors: Spena, Silvia, Gervasini, Cristina, Milani, Donatella
• Format: Journal Article
• Language: English
• Published: Stuttgart · New York Georg Thieme Verlag KG 01.09.2015
• Series: Genetic Advances in Intellectual Disability
• Subjects: Review; Review Article; genotype–phenotype correlation; Rubinstein–Taybi syndrome; clinical and molecular diagnosis; management; therapy
• ISSN: 2146-4596; 2146-460X
• DOI: 10.1055/s-0035-1564571

Abstract Rubinstein–Taybi syndrome (RSTS) is a rare, congenital, plurimalformative, and neurodevelopmental disorder. Clinical diagnosis can be complicated by the heterogeneous clinical presentation and the lack of a consensus list of diagnostic criteria, and it is confirmed by molecular tests in approximately 55 to 78% of cases. The etiology is partially known with mutations in two functionally related genes: CREBBP and EP300 . Notwithstanding the knowledge on clinical, genetic, and allelic heterogeneity, no clear genotype–phenotype correlation has yet been established. Standardized guidelines for the management of pediatric patients are available and therapy for RSTS patients is currently only symptomatic. In this article, several clinic and genetic aspects of RSTS are critically reviewed.