Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
AffiliationOur Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin,, Crumlin, Ireland.
Chromosomes, Human, Pair 22
DNA Mutational Analysis
E1A-Associated p300 Protein/*genetics
MetadataShow full item record
CitationAm J Med Genet A. 2009 May;149A(5):997-1000.
JournalAmerican journal of medical genetics. Part A
AbstractRubinstein-Taybi syndrome (RSTS) is a heterogeneous disorder with approximately 45-55% 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.