A case of neurofibromatosis type 1 caused by a novel NF1 mutation

Abstract

Neurofibromatosis type 1 is an autosomal dominant disorder caused by loss-of-function mutations in the NF1 gene, leading to constitutive Ras pathway activation. NF1 gene mutations exhibit complete penetrance, cause high phenotypic variability, and feature diverse types without established hotspots. This study identified a novel pathogenic variant via whole-exome sequencing in a pediatric case, broadening the spectrum of known NF1 mutations. We further describe the clinical response to the MEK inhibitor selumetinib, including regression of subcutaneous nodules, with no significant improvement in cutaneous neurofibroma scores was observed.