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

Francesco Calì, Natalia Valeria Chiavetta, Giuseppa Ruggeri, Maria Piccione, Angelo Selicorni, Daniela Palazzo, Maria Bonsignore, Anna Cereda, Maurizio Elia, Pinella Failla, Maria Grazia Figura, Agata Fiumara, Silvia Maitz, Giuseppa Maria Luana Mandarà, Teresa Mattina, Alda Ragalmuto Mannino, Corrado Romano, Martino Ruggieri, Roberto Salluzzo, Antonino SaporosoCarmelo Schepis, Giovanni Sorge, Maria Spanò, Gaetano Tortorella, Michele Salemi, Maria Damjanovicova

Research output: Contribution to journalArticlepeer-review


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 “American College of Medical Genetics and Genomics” 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
Issue number2
Publication statusPublished - Feb 1 2017


  • Legius's syndrome
  • Mosaicism
  • Neurofibromatosis type 1
  • Next generation sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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