title: Molecular basis of neurofibromatosis type 1 (NF1): mutation analysis and polymorphisms in the NF1 gene.
abstract: Neurobromatosis type 1 (NF1) is one of the commonest genetic disorders in humans. The gene for NF1 was cloned in 1990. The protein encoded by the gene (neurofibromin) has extensive sequence homology with GTPase-activating protein (GAP). Despite screening the whole coding region of the gene for large and medium size rearrangements and approximately 40% of the coding region of the gene for small alterations, only 45 germ-line mutations have been reported in more than 500 unrelated patients. Of these, 25 mutations involve small changes in the gene, of which 17 (68%) result in the formation of an inappropriate stop codon. A "hot spot" for mutations has not been identified. The high mutation rate at this locus and the general difficulty in identifying mutations are discussed. A complete understanding of the structure and function of the NF1 gene awaits further detailed studies of both naturally occurring and in vitro-generated mutations.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, U.K.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: D J
authors.initials: DJ
authors.lastname: Shaw
authors.forename: P S
authors.initials: PS
authors.lastname: Harper
mesh_terms: D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D017253:Neurofibromatoses / Q000235:genetics*; D011110:Polymorphism, Genetic