Article
Next-generation sequencing identifies rare variants associated with Noonan syndrome.
Proceedings of the National Academy of Sciences of the United States of America - 5 Aug 2014
Chen Peng-Chieh, Yin Jiani, Yu Hui-Wen, Yuan Tao, Fernandez 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
Abstract excerpt
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 unknown. We performed next-generation sequencing on germ-line DNA from 27 NS patients lacking a mutation in the known NS...
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