Detection of Novel NF1 Variants with Next Generation-based DNA Sequencing Technology, and Genotype-Phenotype Characteristics of Neurofibromatosis

Abstract

Objective: Neurofibromatosis type 1 (NF1, #162200) is a common neurological disorder with de novo or inherited germline mutations of the Neurofibromin (NF1, *613113). This study aims to increase the limited knowledge of NF1 in a small population-based dataset. Subjects and Methods:The study enrolled patients with clinically suspected NF1 referred to the Kayseri Education and Research Hospital, Medical Genetics Department, between 2015-2017. The local ethics committee approved the study. Next-generation sequencing was performed for the genetic analysis. The genetic, demographic, and clinical features of the participants were characterized.Results: A total of 79 cases of NF1 were included. Of those, 40 were male and 39 were female. The mean age was 11,9 years and most were younger than 18 years. The most common complaint was Cafe-au-lait macules. The 61 (77.3%) patients had pathogenic variants, and 16 (26.2%) were novel. Mostly affected mutation sites were exonic regions(n:54,88.5%). The most common mutated exon was exon 38 (n:7,11.5%), and most of the detected mutations were nonsense mutations (31%).This article has been accepted for publication and undergone full peer review but has not been through the copyediting, typesetting, pagination and proofreading process, which may lead to differences between this version and the Version of Record.