Noonan syndrome gene
AssigneeMount Sinai School of Medicine of New York University
InventorsBruce D. Gelb, Marco Tartaglia
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Abstract
Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in the protein tyrosine phosphatase gene PTPN11 and its expression product, PTPN11, as well as mutations in other components in a PTPN11 signal transduction pathway promoting an increased signaling flux. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to PTPN11 and PTPN11 variants, and cells expressing such variants.
Claims67
A method for diagnosing Noonan syndrome in a subject, which method comprises detecting a mutation in a protein tyrosine phosphatase 11 (PTPN11) gene in the subject, wherein the mutation results in increased PTPN11 expression or activity as compared to a control.
A kit for diagnosing Noonan syndrome, comprising
- an oligonucleotide that specifically hybridizes to or adjacent to a site of mutation of a PTPN11 gene that results in increased activity of a PTPN11 protein encoded by the gene;
- and
- instructions for use.
A kit for diagnosing Noonan syndrome, comprising
- an antibody that specifically recognizes a mutation in a PTPN11 protein;
- and
- instructions for use.
A method for diagnosing Noonan syndrome in a subject, which method comprises assessing the level of expression or activity of a PTPN11 protein in the test subject and comparing it to the level of expression or activity in a control subject, wherein an increased expression or basal activity of the PTPN11 protein in the test subject compared to the control subject is indicative of Noonan syndrome.
A method for diagnosing Noonan syndrome in a subject, which method comprises assessing the level of activity of a PTPN11 signal transduction pathway in a test subject and comparing it to the level of activity in a control subject, wherein increased activity of the pathway in the test subject compared to the control subject is indicative of Noonan syndrome.
A method for treating Noonan syndrome in, a patient, which method comprises administering to the patient in need of such treatment an effective amount of an agent that modulates the expression or activity of a PTPN11 protein, in association with a pharmaceutically acceptable carrier.
An isolated PTPN11 variant comprising a mutation resulting in increased level of PTPN11 activity.
Dependencies are inferred from the claim text.