Genetics of neurofibromatosis type 1

Abstract

Neurofibromatosis type 1 (NF1), also known as von Recklinghausen´s disease, is the most common form of Neurofibromatosis and account for 90% of all cases. The presence of multiple neurofibromas is one of the main clinical manifestations of NF1. Other clinical characteristics include: café au lait spots, inguinal and axillary ephelides and Lisch nodules. NF1 is an autosomal dominant disorder with a complete penetrance and extreme clinical variability, even in intrafamilial cases. The gene complexity and the diversity of mutations in NF1 gene make the genotype-phenotype correlations very difficult. Although many different mutations have been described, information about genotype-phenotype correlations are still limited. Until now, the only well established genotype-phenotype correlation, reported in many studies, is the association of large deletions (~1.5 mb), involving NF1 gene and contiguous DNA, leading to a more severe phenotype. The aim of this study is to review the literature about the current knowledge of genetic alterations in NF1.