Linked Life Data

16488201

Source:http://linkedlifedata.com/resource/pubmed/id/16488201

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2006-10-9
pubmed:abstractText
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes. Noonan and LEOPARD syndromes are characterised by multiple dysmorphia and cardiac defects with HCM present in approximately 20% of cases. Both syndromes are caused by mutations in the PTPN11 gene which codes for the protein tyrosine phosphatase SHP-2. It is suspected but unproven that the cardiac phenotype may predominate or even be present in isolation. In order to determine possible involvement of this gene in the pathogenesis of HCM, we performed mutation screening of the PTPN11 coding region in 250 selected HCM probands (200 patients without mutations in sarcomeric genes and 50 with identified mutations). No mutations in PTPN11 were identified. Our data suggests that mutations in the PTPN11 gene are not a cause of HCM in the absence of Noonan/LEOPARD syndromes.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1769-7212
pubmed:author
pubmed:issnType
Print
pubmed:volume
49
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
426-30
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:articleTitle
Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.
pubmed:affiliation
Department of Medicine, University College London and University College London Hospitals Trust, Cobbold Laboratories, 7th Floor, Jules Thorn Institute, Middlesex Hospital, 48 Riding House Street, London W1W 7EY, UK.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't