Neurofibromatosis type 2 and von Hippel-Lindau disease: from gene cloning to function

Glia
N KleyB R Seizinger

Abstract

Most of the genes for hereditary tumor syndromes cloned thus far have subsequently been shown to be mutated not only in the germlines and tumors from patients with the relatively rare inherited disease, but also in the much more common sporadic tumor counterparts in the general population. Thus, the isolation and functional characterization of genes associated with hereditary tumor syndromes have emerged as a major strategy to gain insights into some of the most fundamental mechanisms of tumorigenesis. The search for the genes causing two hereditary tumor syndromes of the nervous system, neurofibromatosis type 2 (NF2) and von Hippel-Lindau disease (VHL), has recently culminated in the cloning of both disease genes. This represents another successful application of the so-called positional cloning approach, i.e., the isolation of a hereditary disease gene with unknown function, based on the determination of its chromosomal location in the human genome. The gene for NF2, a syndrome typically associated with vestibular schwannomas and meningiomas, is homologous with a family of genes whose members appear to play an important role in bridging the cell membrane with the intracellular cytoskeleton, including moesin, ezrin, radixin, a...Continue Reading

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Citations

Feb 2, 2006·Neurosurgery Clinics of North America·John H ChiAndrew T Parsa
Jan 22, 2014·Glia·René Günther FeichtingerBarbara Kofler
Oct 3, 2015·Global Spine Journal·Dino SamartzisRichard G Fessler

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