Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Foley, Patricia Bunyan, David Stratton, John Dillon, Michelle Lynch, Sally Ann
Foley, Patricia
Bunyan, David
Stratton, John
Dillon, Michelle
Lynch, Sally Ann
Advisors
Editors
Other Contributors
Date
2012-02-01T10:24:10Z
Date Submitted
Keywords
Other Subjects
Subject Mesh
Child
Chromosomes, Human, Pair 22
DNA Mutational Analysis
E1A-Associated p300 Protein/*genetics
Humans
Male
Rubinstein-Taybi Syndrome/*genetics
Sequence Deletion
Chromosomes, Human, Pair 22
DNA Mutational Analysis
E1A-Associated p300 Protein/*genetics
Humans
Male
Rubinstein-Taybi Syndrome/*genetics
Sequence Deletion
Planned Date
Start Date
Collaborators
Principal Investigators
Alternative Titles
Publisher
Abstract
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.
Language
eng
ISSN
1552-4833 (Electronic)
1552-4825 (Linking)
1552-4825 (Linking)
eISSN
ISBN
DOI
10.1002/ajmg.a.32771
PMID
19353645