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Title: Compositions and methods for detecting Noonan syndrome

Abstract

Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.

Inventors:
 [1];  [2];  [3]
  1. New York, NY
  2. Rome, IT
  3. Walnut Creek, CA
Issue Date:
Research Org.:
Lawrence Livermore National Lab. (LLNL), Livermore, CA (United States)
Sponsoring Org.:
USDOE
OSTI Identifier:
1068839
Patent Number(s):
8221979
Application Number:
12/443,752
Assignee:
Mount Sinai School of Medicine (New York, NY); The Regents of the University of California (Oakland, CA)
Patent Classifications (CPCs):
C - CHEMISTRY C12 - BIOCHEMISTRY C12Q - MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS
G - PHYSICS G01 - MEASURING G01N - INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
DOE Contract Number:  
AC52-07NA27344
Resource Type:
Patent
Country of Publication:
United States
Language:
English
Subject:
60 APPLIED LIFE SCIENCES

Citation Formats

Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States: N. p., 2012. Web.
Gelb, Bruce D, Tartaglia, Marco, & Pennacchio, Len. Compositions and methods for detecting Noonan syndrome. United States.
Gelb, Bruce D, Tartaglia, Marco, and Pennacchio, Len. Tue . "Compositions and methods for detecting Noonan syndrome". United States. https://www.osti.gov/servlets/purl/1068839.
@article{osti_1068839,
title = {Compositions and methods for detecting Noonan syndrome},
author = {Gelb, Bruce D and Tartaglia, Marco and Pennacchio, Len},
abstractNote = {Diagnostic and therapeutic applications for Noonan Syndrome are described. The diagnostic and therapeutic applications are based on certain mutations in a RAS-specific guanine nucleotide exchange factor gene SOS1 or its expression product. The diagnostic and therapeutic applications are also based on certain mutations in a serine/threonine protein kinase gene RAF1 or its expression product thereof. Also described are nucleotide sequences, amino acid sequences, probes, and primers related to RAF1 or SOS1, and variants thereof, as well as host cells expressing such variants.},
doi = {},
journal = {},
number = ,
volume = ,
place = {United States},
year = {2012},
month = {7}
}

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Works referenced in this record:

A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1
journal, April 2002


SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome
journal, October 2007


A comprehensive review of genetic association studies
journal, April 2002


Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome
journal, December 2006


Replication validity of genetic association studies
journal, October 2001


Germline gain-of-function mutations in RAF1 cause Noonan syndrome
journal, July 2007


Germline gain-of-function mutations in SOS1 cause Noonan syndrome
journal, December 2006


Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
journal, July 2007