1. Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification
- Author
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Annalisa Schirinzi, Isabella Torrente, Sandra Giustini, Luigina Divona, Laura Bernardini, Annunziata Morella, Maria Cecilia D'Asdia, A. De Luca, Irene Bottillo, Valentina Lanari, Bruno Dallapiccola, Lorenzo Sinibaldi, and Antonio Novelli
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,Neurofibromatosis 1 ,Mutation Report ,Adolescent ,Gene Dosage ,Biology ,Gene mutation ,Polymerase Chain Reaction ,Cohort Studies ,Exon ,Computer Systems ,Gene duplication ,Genes, Neurofibromatosis 1 ,Genetics ,Humans ,Multiplex ,Multiplex ligation-dependent probe amplification ,Child ,Gene ,neoplasms ,Genetics (clinical) ,In Situ Hybridization, Fluorescence ,Point mutation ,Infant ,Exons ,Middle Aged ,Molecular biology ,nervous system diseases ,Phenotype ,Italy ,Scoliosis ,Child, Preschool ,Female ,Molecular probe ,Nucleic Acid Amplification Techniques ,Gene Deletion - 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 encompassingor=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 encompassingor=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.
- Published
- 2007