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

Ludwine M. Messiaen, Tom Callens, Kyle J. Roux, Geert R. Mortier, Anne De Paepe, Marc Abramowicz, Margaret A. Pericak-Vance, Jeffery M. Vance, Margaret R. Wallace

Research output: Contribution to journalArticle

26 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)248-253
Number of pages6
JournalGenetics in Medicine
Volume1
Issue number6
DOIs
StatePublished - Jan 1 1999
Externally publishedYes

Keywords

  • Aberrant splicing
  • Hotspot
  • MIR
  • Mutation
  • Neurofibromatosis type 1
  • Polymorphism

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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