title: A de novo nonsense mutation in exon 28 of the neurofibromatosis type 1 (NF1) gene.
abstract: We have screened a total of 105 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 28 of the NF1 gene using heteroduplex analysis and single strand conformation polymorphism analysis. One novel mutation has been identified and characterised. This mutation involves a 13-bp deletion (AAACTGGCTGAGC or AACTGGCTGAGCA) from base position 5077 (or 5078) to 5089 (or 5090) of the cDNA coding sequence. This alteration leads to a reading frame shift with a premature amber termination signal (TAG) at codon 1694. In addition, there is a change from lysine to threonine at codon 1693. The truncated gene product is estimated to be 1125 amino acid residues shorter than the predicted normal protein (2818 amino acids).
authors.affiliation: Institute of Medical Genetics, College of Medicine, University of Wales, Heath Park, Cardiff, UK.
authors.forename: M H
authors.initials: MH
authors.lastname: Shen
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002872:Chromosome Deletion; D004247:DNA / Q000032:analysis; D004252:DNA Mutational Analysis; D004587:Electrophoresis, Agar Gel; D005091:Exons / Q000235:genetics*; D016368:Frameshift Mutation; D016514:Genes, Neurofibromatosis 1 / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004247:DNA