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 language | English (US) |
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Pages (from-to) | 248-253 |
Number of pages | 6 |
Journal | Genetics in Medicine |
Volume | 1 |
Issue number | 6 |
DOIs | |
State | Published - 1999 |
Keywords
- Aberrant splicing
- Hotspot
- MIR
- Mutation
- Neurofibromatosis type 1
- Polymorphism
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics