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

A. De Luca, I. Bottillo, M. C. Dasdia, A. Morella, V. Lanari, L. Bernardini, L. Divona, S. Giustini, L. Sinibaldi, A. Novelli, I. Torrente, A. Schirinzi, Bruno Dallapiccola

Research output: Contribution to journalArticlepeer-review


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 ≥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 ≥1 NF1 exons accounted for ∼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.

Original languageEnglish
Pages (from-to)800-808
Number of pages9
JournalJournal of Medical Genetics
Issue number12
Publication statusPublished - Dec 2007

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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