Novel mutations in NF۱ 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 ۱ is a dominant autosomal disorder caused by a range of NF۱ mutations. About ۵–۱۰ percent of all hereditary NF۱ 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 ۴-year-old symptomatic male without any family history of the disease, a ۳۱ years old lady with clinical presentation of Neurofibromatosis. She had a positive family history of the disease.Results: two novel likely pathogenic mutations, c.۶۹۷۱T>A (p.Leu۲۳۲۴Ter) and c.۱۲۶۱-۲A>G were found in NF۱ 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.

کلیدواژه ها:

Neurofibromatosis ، Novel Mutation ، NF۱ ، NF۲