Figure 3.

Patient Sample 1 harbors a rare NOTCH1 mutation. (A) Results from Sanger sequencing of patient samples. Patient Sample 1 (PS 1) had a heterozygous mutation in the heterodimerization (HD) domain of the NOTCH1 gene (p.A1696D). Patient Sample 2 (PS 2) did not have any mutations in the genes sequenced. (B) p.A1696D mutated NOTCH1 up-regulates luciferase reporter activity. HeLa cells transfected with JH23a Notch reporter plasmid, Renilla, and+Notch with A1696A/D or the PEST mutation. P.A1696D mutated Notch plasmid up-regulated luciferase reporter activity to a similar degree as constitutively active Notch (with PEST mutation). Means+SEM; N=3; N: biological replicates.