NF1 and neurofibromatosis type 1: By contrast, in the child with neurofibromatosis type 1, we found bona fide somatic NF1 driver point mutations (Fig. 2) that either truncated the gene (p.R304*, p.K233fs*48 and p.I679fs*21) or were likely oncogenic based on recurrence, in silico predictions, correlation between genotype and phenotype and functional studies (p.Y489C)20,21.