Linked Life Data

15240615

Source:http://linkedlifedata.com/resource/pubmed/id/15240615

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2004-7-8
pubmed:abstractText
We report on PTPN11 (protein-tyrosine phosphatase, nonreceptor type 11) mutation analysis and clinical assessment in 45 patients with Noonan syndrome. Sequence analysis was performed for all of the coding exons 1-15 of PTPN11, revealing a novel 3-bp deletion mutation and 10 recurrent missense mutations in 18 patients. Clinical assessment showed that 1) the growth pattern was similar in mutation-positive and mutation-negative patients, with no significant difference in birth length [-0.6 +/- 2.2 sd (n = 10) vs. -0.6 +/- 1.4 sd (n = 21); P = 0.95], childhood height [-2.6 +/- 1.1 sd (n = 14) vs. -2.1 +/- 1.6 sd (n = 23); P = 0.28], or target height [-0.4 +/- 0.9 sd (n = 14) vs. -0.2 +/- 0.7 sd (n = 17); P = 0.52]; 2) pulmonary valve stenosis was more frequent in mutation-positive patients than in mutation-negative patients (10 of 18 vs. 6 of 27; P = 0.02), as was atrial septal defect (10 of 18 vs. 4 of 27; P = 0.005), whereas hypertrophic cardiomyopathy was present in five mutation-negative patients only; and 3) other features were grossly similar in the prevalence between mutation-positive and mutation-negative patients, but hematological abnormalities, such as bleeding diathesis and juvenile myelomonocytic leukemia, were exclusively present in mutation-positive patients (5 of 18 vs. 0 of 27; P = 0.007). The results suggest that PTPN11 mutations account for approximately 40% of Noonan syndrome patients, as has been reported previously. Furthermore, assessment of clinical features, in conjunction with data reported previously, implies that the type of cardiovascular lesions and the occurrence of hematological abnormalities are different in mutation-positive and mutation-negative patients, whereas the remaining findings are similar in the two groups of patients.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0021-972X
pubmed:author
pubmed:issnType
Print
pubmed:volume
89
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
3359-64
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:15240615-Adolescent, pubmed-meshheading:15240615-Adult, pubmed-meshheading:15240615-Body Height, pubmed-meshheading:15240615-Cardiovascular Diseases, pubmed-meshheading:15240615-Child, pubmed-meshheading:15240615-Child, Preschool, pubmed-meshheading:15240615-DNA Mutational Analysis, pubmed-meshheading:15240615-Exons, pubmed-meshheading:15240615-Female, pubmed-meshheading:15240615-Gene Deletion, pubmed-meshheading:15240615-Growth, pubmed-meshheading:15240615-Hematologic Diseases, pubmed-meshheading:15240615-Humans, pubmed-meshheading:15240615-Incidence, pubmed-meshheading:15240615-Infant, pubmed-meshheading:15240615-Intracellular Signaling Peptides and Proteins, pubmed-meshheading:15240615-Male, pubmed-meshheading:15240615-Mutation, pubmed-meshheading:15240615-Mutation, Missense, pubmed-meshheading:15240615-Noonan Syndrome, pubmed-meshheading:15240615-Protein Tyrosine Phosphatase, Non-Receptor Type 11, pubmed-meshheading:15240615-Protein Tyrosine Phosphatases, pubmed-meshheading:15240615-Pulmonary Valve Stenosis
pubmed:year
2004
pubmed:articleTitle
Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.
pubmed:affiliation
Department of Pediatrics, Keio University School of Medicine, Tokyo 160-8582, Japan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't