Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing

Academic 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.
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    Digital Object Identifier (doi)

    Author List

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

  • 248
  • End Page

  • 253
  • Volume

  • 1
  • Issue

  • 6