Neurofibromatosis type 1 (NF1) (OMIM#162200) is an autosomal dominant multi-symptomatic disorder affecting ~1 in 2000–3000 individuals worldwide and is caused by inherited or de novo mutations in the NF1 tumor suppressor gene (chromosome 17q11.2) [1]. The gene discussed is NF1; the disease is neurofibromatosis type 1.