Neurofibromatosis Type 1: Molecular and Cellular Biology

摘要: Neurofibromatosis type 1 (NF1) is a common autosomal dominant condition frequently described as neurocutaneous disorder. The prototypical findings of NF1 include cafe-au-lait macules, neurofibromas, axillary or groin frecklings, optic pathway tumors, Lisch nodules (benign hamartomas the iris), and unique dysplastic skeletal (long bone bowing/pseudarthrosis and/or sphenoid wing dysplasia). This genetic has high degree clinical variability, with affected members same family sometimes displaying significantly different manifestations. It is, however, fully penetrant in adults. affects individuals without predilection to ethnicity gender. gene was cloned by mapping approach, its DNA sequence encodes peptide, neurofibromin, that homology p21Ras GTPase-activating proteins. role neurofibromin plays Ras signal transduction suggests mechanism for pathophysiology approaches development rational therapy this