Identification of a missense mutation causing exon skipping in a neurofibromatosis type 1 patient

Neurofibromatosis type 1 ( NF 1), caused by germ line mutations of the NF 1 tumor‐suppressor gene, is one of the most common autosomal dominant disorders. Here, we reported a NF 1 patient with the mutation NF 1 c.4367+1G>C. This sequence change locates at the first nucleotide of NF 1 intron 32 within the consensus splice site. Compared with NF 1 c.4367G>C predicted to potentially damage the wild‐type donor site at c.4367, the NF 1 c.4367+1G>C potentially abolishes this wild‐type donor site by in silico analysis. In vitro minigene assay revealed that the NF 1 c.4367+1G>C may cause exon 32 skipping. Our result provides further evidence for its clinical significance of NF 1 c.4367+1G>C in clinical practise.