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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.

Neurofibromatosis type 1 ( NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 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/differentiation. We performed mutation analyses in the NF1-GRD region (exons 21-27a) and in exons 4b, 16, 29, and 37, and intron 28 in 17 NF1 patients with tumors. We identified a large deletion in the NF1 gene in a patient with a rhabdomyosarcoma as well as a variation in intron 22 in a patient with an optic glioma. We also found a 4-base pair deletion in another patient with optic glioma. In addition, allelic loss of the NF1 locus was shown in a pilocytic astrocytoma. Functional analyses of mutations in the NF1 gene may provide further insights into the pathogenesis of NF1 tumors.[1]


  1. Molecular genetic analyses in neurofibromatosis type 1 patients with tumors. Oguzkan, S., Terzi, Y.K., Cinbis, M., Anlar, B., Aysun, S., Ayter, S. Cancer Genet. Cytogenet. (2006) [Pubmed]
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