A Systematic Literature Review of Neurofibromatosis Type 1

Ni Putu Sevina Lovyanti¹, Joni Wahyuhadi^2*,  Dyah Fauziah³, Rahadian Indarto Susilo²

Abstract

Background: Neurofibromatosis type 1 is an autosomal disease caused by a mutation on chromosome 17, resulting in several clinical manifestations outlined in the diagnostic criteria and affecting other organ systems. Objective: This research aims to review the correlation between genetic mutations and the clinical presentations of NF1. Method: A total of 829 studies were identified through e-databases and filtered using PRISMA. Results: The selected studies yielded several key findings. Nine studies identified point mutations, and four noted microdeletions. Diagnostic NF1 features were confirmed in 12 studies, with frequent additional involvement, including neurological (10), cognitive/behavioral (12), dysmorphic features (8), cardiovascular (7), ocular (6), and endocrine (4). Frameshift and nonsense mutations were associated with spine and bone deformities; missense and nonsense mutations with cardiovascular anomalies. Deletions were associated with broader symptoms, especially ocular anomalies, dysmorphic traits, and intellectual disability. Conclusion: Overall, this research highlights NF1’s clinical and mutation diversity, with clinical characteristics ranging from the symptoms outlined in the diagnostic criteria to other organ abnormalities, and its relationship to specific mutation types.

Keywords

NF1; neurofibromatosis type 1; genetic; gene mutation; gene deletion; genotype; phenotype

Cite This Article

Lovyanti, N. P. S., Wahyuhadi, J., Fauziah, D., Susilo, R. I. (2025). A Systematic Literature Review of Neurofibromatosis Type 1. International Journal of Scientific Advances (IJSCIA), Volume 6| Issue 6: Nov – Dec 2025, Pages 1179-1195 URL: https://www.ijscia.com/wp-content/uploads/2025/12/Volume6-Issue6-Nov-Dec-No.993-1179-1195.pdf

Volume 6 | Issue 6: Nov – Dec 2025