Linked Life Data

20014264

Source:http://linkedlifedata.com/resource/pubmed/id/20014264

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2009-12-29
pubmed:abstractText
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five other patients have been reported. We propose that individuals with EP300 mutations may exhibit a slightly different phenotype compared to individuals with CREBBP mutations, with milder cognitive impairment, more pronounced microcephaly, absent or mild downslanting of palpebral fissures, distinct arched eyebrows, and greater degree of retrognathia.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1552-4833
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
152A
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
181-4
pubmed:dateRevised
2010-11-1
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome.
pubmed:affiliation
Institut für Humangenetik, Universitätsmedizin der Johannes Gutenberg-Universität Mainz, Langenbeckstrasse 1, D-55131 Mainz, Germany. bartsch@humgen.klinik.uni-mainz.de
pubmed:publicationType
Journal Article