Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Rubinstein-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.
Our Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin, Crumlin, Ireland.
Patricia
P
Foley
David
D
Bunyan
John
J
Stratton
Michelle
M
Dillon
Sally Ann
SA
Lynch
D002648:Child; D002892:Chromosomes, Human, Pair 22; D004252:DNA Mutational Analysis; D050881:E1A-Associated p300 Protein / Q000235:genetics*; D006801:Humans; D008297:Male; D012415:Rubinstein-Taybi Syndrome / Q000235:genetics*; D017384:Sequence Deletion
D050881:E1A-Associated p300 Protein; C494360:EP300 protein, human