Next-generation sequencing identifies rare variants associated with Noonan syndrome

Noonan syndrome (NS) is a relatively common genetic disorder, characterized by typical facies, short stature, developmental delay, and cardiac abnormalities. Known causative genes account for 70–80% of clinically diagnosed NS patients, but the genetic basis for the remaining 20–30% of cases is unkno...

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Veröffentlicht in:	Proceedings of the National Academy of Sciences - PNAS 2014-08, Vol.111 (31), p.11473-11478
Hauptverfasser:	Chen, Peng-Chieh, Yin, Jiani, Yu, Hui-Wen, Yuan, Tao, Fernande, Minerva, Yung, Christina K., Trinh, Quang M., Peltekova, Vanya D., Reid, Jeffrey G., Tworog-Dube, Erica, Morgan, Margaret B., Muzny, Donna M., Stein, Lincoln, McPherson, John D., Roberts, Amy E., Gibbs, Richard A., Neel, Benjamin G., Kucherlapati, Raju
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Biological Sciences Cell lines Deoxyribonucleic acid Disorders DNA Genes Genetic Association Studies Genetic disorders Genetic mutation Genomes HEK293 cells high-throughput nucleotide sequencing High-Throughput Nucleotide Sequencing - methods Humans Kinases MAP Kinase Kinase 1 - genetics MAP Kinase Signaling System - genetics Medical genetics missense mutation mitogen-activated protein kinase kinase mutants Mutation Mutation - genetics Neurofibromin 1 - genetics nonsense mutation Noonan syndrome Noonan Syndrome - genetics Pathogenesis patients phenotype Phenotypes ras Proteins - genetics ras Proteins - metabolism Sequencing
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