Unraveling novel variants in the NF1 gene and investigating potential therapeutic strategies.

ABSTRACT: Germline mutations in the NF1 gene disrupt neurofibromin function, leading to autosomal-dominant neurofibromatosis type I (NF1). As a tumor suppressor, neurofibromin negatively regulates the RAS signaling. NF1 presents notable phenotypic variability, progressive symptoms with age, and potential malignant transformation. Early screening, diagnosis, and necessary interventions are essential for improving patient outcomes. Here, sixteen NF1 variants were identified at Henan Provincial People's Hospital. Among them, 75.0% were de novo mutations, and two novel variants, c.547_548delAT p.(Ile183Glnfs*17) and c.4721dupC p.(Thr1574Thrfs*2), were revealed. These two novel variants, located in the RAS-GTPase domain, manifested cutaneous café-au-lait macules at birth; the former even exhibited motor

SUBMITTER: Huang J 

PROVIDER: S-EPMC12228754 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature