fig3

Figure 3. Timeline of neurofibromin expression, NF1 manifestations, and timing of NF1-HCT. Blue boxes: neurofibromin expression. Green boxes: three NF1-manifestation groups based on the age of occurrence. NF1-HCT would ideally commence at weeks 4-5 of gestation when neurofibromin is widely expressed at high levels (blue arrow). Otherwise, NF1-HCT should begin as early as possible after birth (green arrow). Even if started later in life (yellow arrows), a benefit is expected given the lifelong increase in NF1 manifestations and non-NF1 tumors, and the potential to reverse established manifestations that have an element of plasticity. SWLBD: Sphenoid wing and/or long bone dysplasia. NF1: Neurofibromatosis type 1; NF1-HCT: NF1 haploinsufficiency correction therapy.