title: Two further cases of mutation R1947X in the NF1 gene: screening for a relatively common recurrent mutation.
abstract: We present two further cases of mutation R1947X in the neurofibromatosis type 1 gene. To date, a total of nine cases of mutation R1947X have been reported giving a frequency of about 2% and confirming the recurrence of this mutation. R1947X occurs within a CpG dinucleotide and supports the hypothesis that the mutation rate for this dinucleotide is higher than that of other dinucleotides. As routine analysis for R1947X is advisable, we have developed an allele-specific oligonucleotide hybridization assay for the efficient screening of a large number of samples.
authors.affiliation: Genetic Service, Hospital Clínic i Provincial, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Lázaro
authors.forename: H
authors.initials: H
authors.lastname: Kruyer
authors.forename: A
authors.initials: A
authors.lastname: Gaona
authors.forename: X
authors.initials: X
authors.lastname: Estivill
mesh_terms: D000483:Alleles; D001483:Base Sequence; D015226:Dinucleoside Phosphates / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D016514:Genes, Neurofibromatosis 1; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009456:Neurofibromatosis 1 / Q000235:genetics*; D009693:Nucleic Acid Hybridization / Q000235:genetics; D010375:Pedigree; D017354:Point Mutation
chemical_list: D015226:Dinucleoside Phosphates; C015772:CpG dinucleotide