Linked Life Data

20578946

Source:http://linkedlifedata.com/resource/pubmed/id/20578946

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2010-6-28
pubmed:abstractText
Noonan and Noonan-like syndromes are disorders of dysregulation of the rat sarcoma viral oncogene homolog (RAS)-mitogen-activated protein kinase signaling pathway. In Noonan syndrome (NS), four genes of this pathway (PTPN11, SOS1, RAF1, and KRAS) are responsible for roughly 70% of the cases. We analyzed PTPN11 and KRAS genes by bidirectional sequencing in 95 probands with NS and 29 with Noonan-like syndromes, including previously reported patients already screened for PTPN11 gene mutations. In the new patients with NS, 20/46 (43%) showed a PTPN11 gene mutation, two of them novel. In our total cohort, patients with NS and a PTPN11 mutation presented significantly higher prevalence of short stature (p = 0.03) and pulmonary valve stenosis (p = 0.01), and lower prevalence of hypertrophic cardiomyopathy (p = 0.01). Only a single gene alteration, of uncertain role, was found in the KRAS gene in an NS patient also presenting a PTPN11 gene mutation. We further analyzed the influence in clinical variability of three frequent polymorphisms found in the KRAS gene and no statistically significant difference was observed among the frequency of clinical findings regarding the studied polymorphisms.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
1945-0257
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
425-32
pubmed:meshHeading
pubmed-meshheading:20578946-Adolescent, pubmed-meshheading:20578946-Adult, pubmed-meshheading:20578946-Cardiomyopathy, Hypertrophic, pubmed-meshheading:20578946-Child, pubmed-meshheading:20578946-Child, Preschool, pubmed-meshheading:20578946-DNA Mutational Analysis, pubmed-meshheading:20578946-Female, pubmed-meshheading:20578946-Genotype, pubmed-meshheading:20578946-Humans, pubmed-meshheading:20578946-Male, pubmed-meshheading:20578946-Mutation, pubmed-meshheading:20578946-Noonan Syndrome, pubmed-meshheading:20578946-Phenotype, pubmed-meshheading:20578946-Protein Tyrosine Phosphatase, Non-Receptor Type 11, pubmed-meshheading:20578946-Proto-Oncogene Proteins, pubmed-meshheading:20578946-Pulmonary Valve Stenosis, pubmed-meshheading:20578946-Syndrome, pubmed-meshheading:20578946-Young Adult, pubmed-meshheading:20578946-ras Proteins
pubmed:year
2010
pubmed:articleTitle
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.
pubmed:affiliation
Unidade de Genética, Instituto da Criança, São Paulo, Brazil.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't