Fig. 4
From: Phenotypic distinctions between mosaic forms of tuberous sclerosis complex
The variant allele fraction (VAF) in the blood correlates with the number of major features in patients with mosaic tuberous sclerosis complex (TSC). Patients with asymmetrical angiofibroma (Asym-AF) and symmetrical angiofibroma (Sym-AF) mosaicism are represented by white and gray circles respectively. a The VAF detected in the blood of patients with mosaicism correlated significantly with the number of major TSC features present (R = 0.55, n = 16, p = 0.028). b The range of the VAF detected in cultured fibroblast and whole skin tumor DNA samples. Samples included 29 angiofibromas, 3 ungual fibromas, 3 shagreen patches, and 1 oral fibroma. Four cultured fibroblast samples from three patients, and one whole tissue sample had no variant identified (NVI). These samples include our newly analyzed and previously published samples.
