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

doi:10.1097/00125817-199909000-00002

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

Hussman Institute for Human Genomics

Research output: Contribution to journal › Article › peer-review

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 language	English (US)
Pages (from-to)	248-253
Number of pages	6
Journal	Genetics in Medicine
Volume	1
Issue number	6
DOIs	https://doi.org/10.1097/00125817-199909000-00002
State	Published - 1999

Keywords

Aberrant splicing
Hotspot
MIR
Mutation
Neurofibromatosis type 1
Polymorphism

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1097/00125817-199909000-00002

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Messiaen, L. M., Callens, T., Roux, K. J., Mortier, G. R., De Paepe, A., Abramowicz, M., Pericak-Vance, M. A., Vance, J. M., & Wallace, M. R. (1999). Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. Genetics in Medicine, 1(6), 248-253. https://doi.org/10.1097/00125817-199909000-00002

Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. / Messiaen, Ludwine M.; Callens, Tom; Roux, Kyle J.; Mortier, Geert R.; De Paepe, Anne; Abramowicz, Marc; Pericak-Vance, Margaret A.; Vance, Jeffery M.; Wallace, Margaret R.

In: Genetics in Medicine, Vol. 1, No. 6, 1999, p. 248-253.

Research output: Contribution to journal › Article › peer-review

Messiaen, Ludwine M. ; Callens, Tom ; Roux, Kyle J. ; Mortier, Geert R. ; De Paepe, Anne ; Abramowicz, Marc ; Pericak-Vance, Margaret A. ; Vance, Jeffery M. ; Wallace, Margaret R. / Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing. In: Genetics in Medicine. 1999 ; Vol. 1, No. 6. pp. 248-253.

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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 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.",

keywords = "Aberrant splicing, Hotspot, MIR, Mutation, Neurofibromatosis type 1, Polymorphism",

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

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AU - Messiaen, Ludwine M.

AU - Callens, Tom

AU - Roux, Kyle J.

AU - Mortier, Geert R.

AU - De Paepe, Anne

AU - Abramowicz, Marc

AU - Pericak-Vance, Margaret A.

AU - Vance, Jeffery M.

AU - Wallace, Margaret R.

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N2 - 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.

AB - 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.

KW - Aberrant splicing

KW - Hotspot

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KW - Mutation

KW - Neurofibromatosis type 1

KW - Polymorphism

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