ArticleFrontiers in neuroscience2025
Case Report: Phenotypic heterogeneity within an NF1 family: assessment of the pathogenicity of a
Article in Frontiers in neuroscience, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder with wide variability in its clinical presentation, rate of progression, and severity of complications. The majority of patients have point mutations, but no specific mutational hotspots have been identified. The aim of the present study was to better understand the genotypic and phenotypic characteristics of NF1 by conducting a detailed analysis of a single case, from genetic diagnosis to the exploration of underlying mechanisms. Methods: The study included an 11-year-old girl with epilepsy who presented to our hospital in 2021. Clinical data of the patient and her family members were collected, and peripheral venous blood samples were analyzed for causative genes using whole-exome sequencing. The identified genes were validated using Sanger sequencing, and alterations in the tertiary structural physicochemical properties of the mutant proteins were analyzed using AlphaFold2 bioinformatics software. Results: We identified two mutation sites in the Conclusion: In the present study, we not only identified previously undescribed
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