Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder with an incidence of 1 in 3,500 (Hersh, 2008). NF1 is caused by a pathogenic variant in the NF1 tumor suppressor gene. Common features include café-au-lait spots, inguinal and axillary freckling, Lisch nodules, neurofibromas and scoliosis. Additionally, approximately 40 to 60 percent of NF1 individuals have a learning disability, such as attention-deficit/hyperactivity disorder and difficulties with reading and/or spelling (Hersh, 2008). Less frequently, more severe manifestations such as pseudarthrosis, optic or other low-grade gliomas, and malignant transformation of tumors occur. A de novo pathogenic NF1 variant provides an explanation for approximately half of individuals with NF1, whereas the other half inherited a pathogenic NF1 variant from an affected parent. NF1 is a completely penetrant condition with extreme inter-and intra-familial variability in expression. Relatively few NF1 genotype-phenotype correlated cases are documented. Previous studies have demonstrated that overall NF1 knowledge is deficient among affected individuals and parents of children with NF1 (
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