The Molecular Biology of Neurofibromatosis Type 1

摘要: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of NF1 gene on human chromosome 17. The contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. 327kDa (2,818 amino acid) neurofibromin protein expressed in most tissues and has number alternative isoforms. Neurofibromin suppressor down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate important PI3K/AKT/mTOR signalling pathway protects cells apoptosis. major clinical featues include multiple cafe-au-lait macules, skinfold freckles, iris Lisch nodules, neurofibromas. diagnostic criteria for diagnosis have been well established. However, there are small cases which not certain. germline mutation rate 10-f...