Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Rubinstein-Taybi syndrome (RSTS) is a rare and severe congenital developmental disorder characterized by congenital anomalies and intellectual disability with a long term memory deficit. The main challenge is to improve the intellectual and memory efficiency of these patients. CREBBP and EP300 are the two genes known to cause RSTS. Both paralogs play a major role in chromatin remodeling and encode for transcriptional co-activators interacting with many proteins. The aim of this pilot study is to characterize the histone acetylation profiles in order to identify specific acetylation markers during normal and pathological neuronal differentiation of cortical and pyramidal neurons in RSTS.
• Patient with a clinical and molecular diagnosis of RSTS
• Patients carrying the CREBBP or EP300 variants
• Patients older than 2 years
• Affiliated patients or beneficiaries of a social security scheme.
• Free, informed and signed consent by the parents or holder of parental authority for minor patients
• Free, informed and signed consent by the patient representative for the major patients under guardianship
• Free, informed and signed consent by the patient for major patients