title: Molecular genetic analyses in neurofibromatosis type 1 patients with tumors.
abstract: 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.
authors.affiliation: University of Hacettepe, Faculty of Medicine, Department of Medical Biology, 06100-Sihhiye, Ankara, Turkey.
authors.forename: Sibel
authors.initials: S
authors.lastname: Oguzkan
authors.forename: Yunus Kasim
authors.initials: YK
authors.lastname: Terzi
authors.forename: Mine
authors.initials: M
authors.lastname: Cinbis
authors.forename: Banu
authors.initials: B
authors.lastname: Anlar
authors.forename: Sabiha
authors.initials: S
authors.lastname: Aysun
authors.forename: Sukriye
authors.initials: S
authors.lastname: Ayter
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005091:Exons; D005260:Female; D006801:Humans; D007438:Introns; D019656:Loss of Heterozygosity; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational