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.

Full Text

Duke Authors

Cited Authors

  • Messiaen, LM; Callens, T; Roux, KJ; Mortier, GR; De Paepe, A; Abramowicz, M; Pericak-Vance, MA; Vance, JM; Wallace, MR

Published Date

  • 1999

Published In

Volume / Issue

  • 1 / 6

Start / End Page

  • 248 - 253

PubMed ID

  • 11258625

International Standard Serial Number (ISSN)

  • 1098-3600

Digital Object Identifier (DOI)

  • 10.1097/00125817-199909000-00002


  • eng

Conference Location

  • United States