Novel Mutations in Nf1 Gene in Two Unrelated Patients Affected By Neurofibromatosis

Background and aim: the complex genetic disorder neurofibromatosis (nf) affects virtually every system of the organ, which causes the appearance of tumors on the nerve tissue. neurofibromatosis type 1 is a dominant autosomal disorder caused by a range of nf1 mutations. about 5–10 percent of all hereditary nf1 mutations include major dna alterations, primarily genomic deletions spreading across the entire gene and flank region, and intragenic multi-exon rearrangements.methods: the next generation sequencing (ngs) approach was used to analyze our two unrelated patients; a 4-year-old symptomatic male without any family history of the disease, a 31 years old lady with clinical presentation of neurofibromatosis. she had a positive family history of the disease.results: two novel likely pathogenic mutations, c.6971t>a (p.leu2324ter) and c.1261-2a>g were found in nf1 gene all in heterozygous states in our two cases respectively. first mutation is a nonsense, the second one is a splice mutation. although these mutations have not been reported, they are expected to affect the protein's function.conclusion: therefore, these mutations are possibly the pathogenic mutation of the samples, which are consistent with their clinical diagnosis.