Novel mutations in NF۱ gene in two unrelated patients affected by Neurofibromatosis

Publish Year: 1399
نوع سند: مقاله کنفرانسی
زبان: English
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شناسه ملی سند علمی:

CIGS16_255

تاریخ نمایه سازی: 14 اردیبهشت 1400

Abstract:

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.

Authors

Fatemeh Ghadyani

Department of Cellular and Molecular, Faculty of Biology Sciences, Islamic Azad University of Tehran-North,Tehran, Iran

Saeid Morovvati

Faculty of Basic Sciences, Tehran Medical Branch, Islamic Azad University, Tehran, Iran