Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM™ platform

Maria Piccione, Valentino Romano, Martino Ruggieri, Silvia Maitz, Maria Spanò, Roberto Salluzzo, Antonino Saporoso, Giuseppa Ruggeri, Corrado Romano, Francesco Calì, Maria Grazia Figura, Maria Grazia Figura, Giuseppa Maria Luana Mandarà, Alda Ragalmuto, Anna Cereda, Valeria Chiavetta, Teresa Mattina, Pinella Failla, Maria Bonsignore, Angelo SelicorniGaetano Tortorella, Giovanni Sorge, Carmelo Schepis, Agata Fiumara, Maurizio Elia

Research output: Contribution to journalArticlepeer-review

16 Citations (Scopus)


Neurofibromatosis type 1 (NF1) is caused by mutations of the NF1 gene and is one of the most common human autosomal dominant disorders. The patient shows different signs on the skin and other organs from early childhood. The best known are six or more café au lait spots, axillary or inguinal freckling, increased risk of developing benign nerve sheath tumours and plexiform neurofibromas. Mutation detection is complex, due to the large gene size, the large variety of mutations and the presence of pseudogenes. Using Ion Torrent PGM⢠Platform, 73 mutations were identified in 79 NF1 Italian patients, 51% of which turned out to be novel mutations. Pathogenic status of each variant was classified using âAmerican College of Medical Genetics and Genomicsâ guidelines criteria, thus enabling the classification of 96% of the variants identified as being pathogenic. The use of Next Generation Sequencing has proven to be effective as for costs, and time for analysis, and it allowed us to identify a patient with NF1 mosaicism. Furthermore, we designed a new approach aimed to quantify the mosaicism percentage using electropherogram of capillary electrophoresis performed on Sanger method.
Original languageEnglish
Pages (from-to)93-99
Number of pages7
JournalEuropean Journal of Medical Genetics
Publication statusPublished - 2017

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)


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