The Genetic Aspects of Neurofibromatosis Type I

Neurofibromatosis type I (NF-I) is a common disorder affecting approximately one in every 3,500 - 4,000 people. Although, the dominant mutant allele seems to be fully penetrant, the clinical expressivity is highly variable, ranging from insignificant caf6-au-lait spots to malignant neurofibrosarcomas. Approximately one-half ofthe patients are born with NF-I will suffer serious medical and social complications. NF-I is a heterogeneous disease with numerous manifestations. Heterogeneity has both clinical and etiologic levels. Clinical heterogeneity has two elements, one of these simply reflects a variation (that is degree ortype of expression), and one that may at least potentially reflect distinct entities.