We re-evaluated our patient 171, highlighting a clinical worsening, characterized by a heavier neurofibroma burden compared to the available data on atypical deletions; subsequently, we studied the impact of the chimeric gene RNF135-SUZ12, generated by the 17q11.2 deletion carried by the patient, on the targets of the two partner genes and finally on the clinical phenotype. This evidence concerns the gene SUZ12 and plexiform neurofibroma.