Article
Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex.
Human genetics - 1 Mar 2010
Qin Wei, Kozlowski Piotr, Taillon Bruce E, Bouffard Pascal, Holmes Alison J, Janne Pasi, Camposano Susana, Thiele Elizabeth, Franz David, Kwiatkowski David J
Abstract excerpt
Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous syndrome caused by mutations in TSC1 and TSC2. However, 10-15% TSC patients have no mutation identified with conventional molecular diagnostic studies. We used the ultra-deep pyrosequencing technique of 454 Sequencing to search for mosaicism in 38 TSC patients who had no TSC1 or TSC2 mutation identified by conventional methods. Two TSC2...
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