This observed pattern of disease is in contrast with those seen in patients with large NF1 deletions [8], who frequently exhibit learning disability, and are at higher risk of a range of cardiovascular anomalies, an increased number of cutaneous, subcutaneous, plexiform, spinal and internal neurofibromas as well as an increased lifetime risk of malignant peripheral nerve sheath tumours (MPNSTs) [8]. The gene discussed is NF1; the disease is malignant peripheral nerve sheath tumor.