title: Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 (NF1) gene.
abstract: Nine novel mutations have been characterized as the result of screening exon 16 of the human NF1 gene in 465 unrelated neurofibromatosis type 1 patients. These lesions include three nonsense and two missense mutations, two deletions, one duplication, and one mutation in the 5' splice site of intron 16. Although exon 16 is the largest NF1 exon, no mutations have so far been reported in this region. This apparent paucity of lesions may be due either to a reduced functional importance of exon 16 or a screening bias or both. However, consideration of the mutability of exon 16 in comparison with other exons suggests that, at least for single base pair substitutions, no such factors need be invoked. Any previous lack of exon 16 mutations in this category would be explicable in terms of a lower propensity to mutate for codons in this gene region.
authors.affiliation: Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, UK.
authors.forename: J
authors.initials: J
authors.lastname: Maynard
authors.forename: M
authors.initials: M
authors.lastname: Krawczak
authors.forename: M
authors.initials: M
authors.lastname: Upadhyaya
mesh_terms: D015982:Bias; D004251:DNA Transposable Elements; D005091:Exons; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis; D012016:Reference Values; D015183:Restriction Mapping; D017384:Sequence Deletion; D014158:Transcription, Genetic
chemical_list: D004251:DNA Transposable Elements; D012333:RNA, Messenger