Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Journal Article (Journal Article)
PURPOSE: To analyze the spectrum and frequency of NF1 mutations in exon 10b. METHODS: Mutation and sequence analysis was performed at the DNA and cDNA level. RESULTS: We identified nine exon 10b mutations in 232 unrelated patients. Some mutations were recurrent (Y489C and L508P), others were unique (1465-1466insC and IVS10b+2delTAAG). Surprisingly, at the RNA level, Y489C causes skipping of the last 62 nucleotides of exon 10b. Another recurrent mutation, L508P, is undetectable by the Protein Truncation Test. CONCLUSION: As exon 10b shows the highest mutation rate yet found in any of the 60 NF1 exons, it should be implemented with priority in mutation analysis.
- Messiaen, LM; Callens, T; Roux, KJ; Mortier, GR; De Paepe, A; Abramowicz, M; Pericak-Vance, MA; Vance, JM; Wallace, MR
Volume / Issue
- 1 / 6
Start / End Page
- 248 - 253
International Standard Serial Number (ISSN)
Digital Object Identifier (DOI)
- United States