Affordable Access

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification.

Authors
  • De Luca, A
  • Bottillo, I
  • Dasdia, M C
  • Morella, A
  • Lanari, V
  • Bernardini, L
  • Divona, L
  • Giustini, S
  • Sinibaldi, L
  • Novelli, A
  • Torrente, I
  • Schirinzi, A
  • Dallapiccola, B
Type
Published Article
Journal
Journal of Medical Genetics
Publisher
BMJ
Publication Date
Dec 01, 2007
Volume
44
Issue
12
Pages
800–808
Identifiers
PMID: 18055911
Source
Medline
License
Unknown

Abstract

To estimate the contribution of single and multi-exon NF1 gene copy-number changes to the NF1 mutation spectrum, we analysed a series of 201 Italian patients with neurofibromatosis type 1 (NF1). Of these, 138 had previously been found, using denaturing high-performance liquid chromatography or protein truncation test, to be heterozygous for intragenic NF1 point mutations/deletions/insertions, and were excluded from this analysis. The remaining 63 patients were analysed using multiplex ligation-dependent probe amplification (MLPA), which allows detection of deletions or duplications encompassing >or=1 NF1 exons, as well as entire gene deletions. MLPA results were validated using real-time quantitative PCR (qPCR) or fluorescent in situ hybridisation. MLPA screening followed by real-time qPCR detected a total of 23 deletions. Of these deletions, six were single exon, eight were multi-exon, and nine were of the entire NF1 gene. In our series, deletions encompassing >or=1 NF1 exons accounted for approximately 7% (14/201) of the NF1 gene mutation spectrum, suggesting that screening for these should now be systematically included in genetic testing of patients with NF1.

Report this publication

Statistics

Seen <100 times