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Updated: Oct 9, 2026

Detection of Alternative Splicing During Epithelial-Mesenchymal Transition
Published on: October 9, 2014
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated
L M Messiaen1, T Callens, K J Roux
1Department of Medical Genetics, University Hospital, Gent, Belgium.
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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