Neuropsychological discovery in neurofibromatosis 1 family associated with a novel pathogenic intronic variant in NF1

Background: Neurofibromatosis 1 (NF1) is a common autosomal disorder, caused by mutation of the tumor suppressor gene chromosome 17q11.2 in humans. Neurocognitive difficulties are common in patients with NF1. The aim of the study was reported, how novel variant of gene mutations correlations with cognitive disabilities, such as ADD JA ADHD of the same NF1 family.