Exon 10b of the NF1 gene represented a mutational hotspot and harbors a recurrent missense mutation y489c associated with aberrant splicing


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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 mitations in 232 unrelated patients. Some mutations were recurrent (Y488C and L508P), other were unique (1465–1466insC and ivs10b + 2deITAAG). Surprisingly, at the RNA level, Y489c cause skipping of the last 62 nucleotides of exon 10b. another recurrent mutation, L508P, is undetectable by the Protein Truncation Test. Conclusion: As exon 10b show the highest mutation rate yet found in any of the 60 NF1 exon, it should be implemented with priorityin mutation analysis.

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