Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.

Hdl Handle:
http://hdl.handle.net/10147/207405
Title:
Further case of Rubinstein-Taybi syndrome due to a deletion in EP300.
Authors:
Foley, Patricia; Bunyan, David; Stratton, John; Dillon, Michelle; Lynch, Sally Ann
Affiliation:
Our Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin,, Crumlin, Ireland.
Citation:
Am J Med Genet A. 2009 May;149A(5):997-1000.
Journal:
American journal of medical genetics. Part A
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207405
DOI:
10.1002/ajmg.a.32771
PubMed ID:
19353645
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
MeSH:
Child; Chromosomes, Human, Pair 22; DNA Mutational Analysis; E1A-Associated p300 Protein/*genetics; Humans; Male; Rubinstein-Taybi Syndrome/*genetics; Sequence Deletion
ISSN:
1552-4833 (Electronic); 1552-4825 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorFoley, Patriciaen_GB
dc.contributor.authorBunyan, Daviden_GB
dc.contributor.authorStratton, Johnen_GB
dc.contributor.authorDillon, Michelleen_GB
dc.contributor.authorLynch, Sally Annen_GB
dc.date.accessioned2012-02-01T10:24:10Z-
dc.date.available2012-02-01T10:24:10Z-
dc.date.issued2012-02-01T10:24:10Z-
dc.identifier.citationAm J Med Genet A. 2009 May;149A(5):997-1000.en_GB
dc.identifier.issn1552-4833 (Electronic)en_GB
dc.identifier.issn1552-4825 (Linking)en_GB
dc.identifier.pmid19353645en_GB
dc.identifier.doi10.1002/ajmg.a.32771en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207405-
dc.description.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.en_GB
dc.language.isoengen_GB
dc.subject.meshChilden_GB
dc.subject.meshChromosomes, Human, Pair 22en_GB
dc.subject.meshDNA Mutational Analysisen_GB
dc.subject.meshE1A-Associated p300 Protein/*geneticsen_GB
dc.subject.meshHumansen_GB
dc.subject.meshMaleen_GB
dc.subject.meshRubinstein-Taybi Syndrome/*geneticsen_GB
dc.subject.meshSequence Deletionen_GB
dc.titleFurther case of Rubinstein-Taybi syndrome due to a deletion in EP300.en_GB
dc.contributor.departmentOur Lady's Childrens Hospital, National Centre for Medical Genetics, Dublin,, Crumlin, Ireland.en_GB
dc.identifier.journalAmerican journal of medical genetics. Part Aen_GB
dc.description.provinceLeinster-

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