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

AUTOR(ES)

De Luca, A

FONTE

BMJ Group

RESUMO

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.

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