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

Notmaki Hatta, Ynzuru Kobayashi, Shigeru Fujita, Takahiko Horiuchi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)70
Number of pages1
JournalJapanese Journal of Human Genetics
Issue number1
Publication statusPublished - 1997

All Science Journal Classification (ASJC) codes

  • Genetics(clinical)


Dive into the research topics of 'Characterisation of gerraline mutations in the neurofibromatosis 1 (NF1) gene in Japan'. Together they form a unique fingerprint.

Cite this