A novel multion in a Chinese family with neurofibromatosis type 1: A case report

This study unveiled a novel pathogenic nonsense mutation, designated as NF1 c.240_243del (p.Q83*), within the proband's genetic sequence. This mutation introduces a premature stop codon, resulting in the truncation of the neurofibromin protein. This truncation, in turn, precipitates the onset of NF1, underscoring the critical role of the NF1 gene in maintaining normal cellular growth and proliferation.