Loading...
Neurofibromatosis Type 1 (NF1), a common autosomal-dominant genodermatosis, is caused by mutation of the NF1 tumor suppressor gene. NF1 has a prevalence of 1:4560; half of cases are inherited, the other half arise from spontaneous mutation. Diagnosis rests on distinctive physical features (multiple café-au-lait spots, skinfold freckling, neurofibromas, and Lisch nodules). Cognitive and behavioral issues (e.g., attention deficit hyperactivity disorder [ADHD]) occur in as many as 80% of children. The NF1 gene encodes for neurofibromin, which regulates the Ras-bound intracellular signaling pathway. Some evidence links abnormalities in the Ras pathway to autism spectrum disorder (ASD). Little is known about the nature and prevalence of ASD in N…