A novel deletion mutation in the NF1 gene in a Taiwanese patient with neurofibromatosis type 1

Neurofibromatosis type 1 (NF1) or von Recklinghausen neurofibromatosis is one of the most common autosomal dominant disorders in humans, primarily affecting cells of neural crest origin and resulting in developmental, pigmentary, and neoplastic abnormalities. NF1 affecting 1 in 3500 individuals and fully penetrant. Mutation detection is complex due to the large size of NF1 gene, the presence of pseudogenes and the great variety of lesions. Here we presented a 20-year-old female patient who had NFl manifestation in school age and gene analysis revealed a novel deletion mutation (263delA).