In the present study we observed that a significant proportion of neurofibromatosis associated mutations (missense, nonsense or silent changes) residing in NF1 exon 7 affect pre-mRNA splicing by disrupting exonic splicing motifs, shifting the transcripts balance towards aberrantly spliced transcripts and producing two types of transcripts: those with the original mutation, and those with the skipping [27]. This evidence concerns the gene NF1 and neurofibromatosis.