title: Characterization of six mutations in exon 37 of neurofibromatosis type 1 gene.
abstract: Neurofibromatosis type 1 (NF1) is one of the most common inherited disorders, with an incidence of 1 in 3,000. We screened a total of 320 unrelated NF1 patients for mutations in exon 37 of the NF1 gene. Six independent mutations were identified, of which three are novel, and these include a recurrent nonsense mutation identified in 2 unrelated patients at codon 2281 (G2281X), a 1-bp insertion (6791 ins A) resulting in a change of TAG (tyrosine) to a TAA (stop codon), and a 3-bp deletion (6839 del TAC) which generated a frameshift. Another recurrent nonsense mutation, Y2264X, which was detected in 2 unrelated patients in this study, was also previously reported in 2 NF1 individuals. All the mutations were identified within a contiguous 49-bp sequence. Further studies are warranted to support the notion that this region of the gene contains highly mutable sequences.
authors.affiliation: Institute of Medical Genetics, Cardiff, Wales, UK.
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
authors.forename: M
authors.initials: M
authors.lastname: Osborn
authors.forename: J
authors.initials: J
authors.lastname: Maynard
authors.forename: P
authors.initials: P
authors.lastname: Harper
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001483:Base Sequence; D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements; D005091:Exons; D016368:Frameshift Mutation; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D015994:Incidence; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000453:epidemiology / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012016:Reference Values; D017384:Sequence Deletion
chemical_list: D003062:Codon; D017931:DNA Primers; D004251:DNA Transposable Elements