Further Case of Rubinstein-Taybi Syndrome Due to a Deletion in EP300

Rubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 4-5-55% of patients showing mutations in the CREB binding protein and a further 3% of patients having mutations in EP300. We report a male child with a deletion of exons 3-8 of the EP300 gene who has RSTS. He has a milder skeletal phenotype, a finding that has been described in other cases with EP300 mutations. The mother suffered from pre-eclampsia and HELLP syndrome in the pregnancy. She subsequently developed a mullerian tumor of her cervix 6 years after the birth of her son. (C) 2009 Wiley-Liss, Inc.