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

作者：Cali Francesco^*; Chiavetta Valeria; Ruggeri Giuseppa; Piccione Maria; Selicorni Angelo; Palazzo Daniela; Bonsignore Maria; Cereda Anna; Elia Maurizio; Failla Pinella; Figura Maria Grazia; Fiumara Agata; Maitz Silvia; Mandara Giuseppa Maria Luana; Mattina Teresa; Ragalmuto Alda; Romano Corrado; Ruggieri Martino; Salluzzo Roberto; Saporoso Antonino; Schepis Carmelo; Sorge Giovanni; Spano Maria; Tortorella Gaetano; Romano Valentino

来源：European Journal of Medical Genetics, 2017, 60(2): 93-99.

DOI：10.1016/j.ejmg.2016.11.001

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

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 cafe 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 T 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.

• 出版日期2017-2