Compositions and methods for detecting Noonan syndrome

Gelb, Bruce D; Tartaglia, Marco; Pennacchio, Len

Title: Compositions and methods for detecting Noonan syndrome

Patent · Tue Jul 17 00:00:00 EDT 2012

OSTI ID:1068839

Gelb, Bruce D ^[1]; Tartaglia, Marco ^[2]; Pennacchio, Len ^[3]

New York, NY
Rome, IT
Walnut Creek, CA

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.

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Research Organization:: Lawrence Livermore National Laboratory (LLNL), Livermore, CA (United States)

Sponsoring Organization:: USDOE

DOE Contract Number:: AC52-07NA27344

Assignee:: Mount Sinai School of Medicine (New York, NY); The Regents of the University of California (Oakland, CA)

Patent Number(s):: 8,221,979

Application Number:: 12/443,752

OSTI ID:: 1068839

Country of Publication:: United States

Language:: English

References (8)

A Mutation in the SOS1 Gene Causes Hereditary Gingival Fibromatosis Type 1 Hart, Thomas C.; Zhang, Yingze; Gorry, Michael C. The American Journal of Human Genetics, Vol. 70, Issue 4 https://doi.org/10.1086/339689	journal	April 2002
SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome Zenker, M.; Horn, D.; Wieczorek, D. Journal of Medical Genetics, Vol. 44, Issue 10 https://doi.org/10.1136/jmg.2007.051276	journal	October 2007
A comprehensive review of genetic association studies Hirschhorn, Joel N.; Lohmueller, Kirk; Byrne, Edward Genetics in Medicine, Vol. 4, Issue 2 https://doi.org/10.1097/00125817-200203000-00002	journal	April 2002
Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome Tartaglia, Marco; Pennacchio, Len A.; Zhao, Chen Nature Genetics, Vol. 39, Issue 1 https://doi.org/10.1038/ng1939	journal	December 2006
Replication validity of genetic association studies Ioannidis, John P. A.; Ntzani, Evangelia E.; Trikalinos, Thomas A. Nature Genetics, Vol. 29, Issue 3 https://doi.org/10.1038/ng749	journal	October 2001
Germline gain-of-function mutations in RAF1 cause Noonan syndrome Razzaque, M. Abdur; Nishizawa, Tsutomu; Komoike, Yuta Nature Genetics, Vol. 39, Issue 8 https://doi.org/10.1038/ng2078	journal	July 2007
Germline gain-of-function mutations in SOS1 cause Noonan syndrome Roberts, Amy E.; Araki, Toshiyuki; Swanson, Kenneth D. Nature Genetics, Vol. 39, Issue 1 https://doi.org/10.1038/ng1926	journal	December 2006
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy Pandit, Bhaswati; Sarkozy, Anna; Pennacchio, Len A. Nature Genetics, Vol. 39, Issue 8 https://doi.org/10.1038/ng2073	journal	July 2007

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