Characterisation of gerraline mutations in the neurofibromatosis 1 (NF1) gene in Japan

Neurofibromatosis 1 (NF1) is an autosomal dominant disease characterized by abnormalities in multiple tissues derived from the neural crest. The gene responsible for NF1 was estimated recently. We analysed 95 unrelated Japanese patients for NF1 gene mutation by PCR/SSCP analysis for all exons. Here we demonstrated eleven deletions, three insertions, three missense mutations, three nonsense mutations and three splicing mutations. And also, we employed cDNA analysis such as RT-PCR and RT-PCR/SSCP, and detected four splicing mutations with exon skippings in addition to the above mutations. Most of the detected mutations generated frameshifts or stop codons resulting in truncation of NF1 product (neurofibromin). Those results suggested that our strategies such as PCR/SSCP and RT-PCR/SSCP were useful tools for the investigation of NF1 mutations.