Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.

Conditions

• Rubinstein-Taybi Syndrome

Interventions

• PROCEDURE: skin biopsy for the primary fibroblast culture and a 15 ml blood sample (3 unnamed samples of 5ml) in each of the 4 SRT patients included.
• OTHER: Generation of Induced Pluripotent Stem Cells (iPSC) from fibroblasts obtained by skin biopsy
• OTHER: Histone acetylation profiles of cells of SRT patients with CREBBP mutations
• OTHER: Functional involvement of identified epigenetic alterations
• BIOLOGICAL: Culture of lymphoblastoid line from blood sample

Sponsor

University Hospital, Bordeaux