fig2

Figure 2. NF1 abnormalities predict absence or presence of mutant neurofibromin. In NF1-HCT, increased transcription of the abnormal NF1 allele will result in either (i) no/negligible mutant neurofibromin: NF1 microdeletion (~5% of cases), and intragenic mutations that result in nonsense-mediated decay (~75% of cases), or (ii) an increase in mutant neurofibromin: intragenic mutations producing full-length neurofibromin (~20% of cases). Note: a small number of NF1 nonsense and frameshift variants may produce neurofibromin due to escape from nonsense-mediated decay. NF1: Neurofibromatosis type 1; NF1-HCT: NF1 haploinsufficiency correction therapy.