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CANCER GENETICS AND CYTOGENETICS, vol.165, no.2, pp.167-171, 2006 (SCI-Expanded)
Neurofibromatosis type I (NFI) is one of the most common autosomal dominant disorders. NFI is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumours. The NFI gene product, neurofibromin. has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating signal transduction and cell proliferation/differentation . We performed mutation analyses in the NFI-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NFI patients with tumors. We identified a large deletion in the NFI gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with in optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NFI locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the I gene may provide further insights into the pathogenesis of NFI tumors. (c) 2006 Elsevier Inc. All rights reserved.