Neurofibromatosis type 1

Abstract The authors review the present data on the clinical and molecular aspects of neurofibromatosis type 1 (NF1). In the clinical part attention is given to the frequent observation of learning disabilities in NF1 children. In these children visual-spatial integration deficits and an increased incidence of school performance problems are observed. The NF1 gene is located on chromosome 17 (17q11.2), and is highly conserved across species. Up to now only a limited number of mutations in this gene have been characterized, and this shows a general lack of genotype-phenotype correlation. Evidence is given that the NF1 gene acts as a true tumor suppressor gene and that oncogenesis in NF1 is a complex multistep phenomenon with the second hit in the NF1 gene as the initiating event. The importance of specialized multidisciplinary outpatient clinics for neurofibromatosis is emphasized because of the complexity of follow-up and treatment of these patients.