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

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

doi:10.1097/00125817-199909000-00002

Publication

Title

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

Author

Messiaen, Ludwine M.

Callens, Tom

Roux, Kyle

Mortier, Geert R.

De Paepe, Anne

Abramowicz, Marc

Perick-Vance, Margaret A.

Vance, Jeffery M.

Wallace, Margaret R.

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 (14651466insC 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.

Language

English

Source (journal)

Genetics in medicine. - Philadelphia, Pa.

Publication

Philadelphia, Pa. : 1998

ISSN

1098-3600

1530-0366

Volume/pages

1:6(1998), p. 248-253

ISI