Figure 1.

Heterozygous nonsense mutations in TSC2 result in reduced tuberin mRNA levels and protein. (A) Sequencing confirms single nucleotide changes causes premature stop codons in TSC2+/− fibroblasts. DNA sequencing reveals wild type and mutant allele but only wild-type allele was detected in mRNA. (B) TSC1 and TSC2 mRNA quantified by qPCR in control and TSC patient (TSP) fibroblasts (n = 3 average of four experimental replicates; P = 0.039, t-test). (C) Tuberin and hamartin protein quantified by immunoblot (n = 3; P = 0.016, t-test).