[MS9-4A-2] EP300 - Related Rubinstein - Taybi syndrome diagnosed by array - CGH
Rubinstein-Taybi syndrome (RSTS) is a rare autosomal dominant congenital disorder characterized by growth retardation, variable degrees of cognitive impairments, and distinctive features, including facial findings and broad thumbs/halluces. Although both CREBBP and EP300 are responsible for RSTS, only 17 RSTS patients have been reported to have EP300 mutations. This indicates that EP300 is related to 8% of RSTS patients and is a minor gene for this syndrome. Previously, patients with EP300 mutations have shown highly variable RSTS phenotypes. In this study, a de novo microdeletion involving EP300 was identified in a patient with intellectual disability and distinctive features; including broad halluces, downward slanting of palpebral fissures, auricular deformation, and brachycephaly. EP300 mutation spectrum and clinical presentations will be discusses in comparison with the previous studies.