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. Here, SUZ12 is linked to neurofibroma.