Abstract: Objective: To detect the mutation of NF1 gene in three sporadic patients with neurofibromatosis type1 (NF1). Methods: Target sequence capture high-throughput sequencing technology was performed in three patients with NF1. After the pathogenic genotypes confirmed, the mutation was verified by multiplex ligation-dependent probe amplification analysis or Sanger sequencing method. SIFT, PolyPhen_2, Mutation Taster and GERP++ software were used to predict the effect of the mutation on protein function. Results: Three different mutations: gross NF1 gene deletions, c.4064delC and exon14_36del of NF1 gene were identified in the three patients respectively. The c.4064delC and exon14_36del have not been reported previously. Conclusion: Three mutations in NF1 gene were identified in these patients. Two of those mutations were novel, which broaden the spectrum of NF1 mutations.

Key words: neurofibromatosis type1, NF1 gene, high-throughput sequencing, MLPA