ANALYSIS OF NF1 GENE-MUTATIONS IN NEUROFIBROMATOSIS TYPE-1 PATIENTS IN JAPAN

Neurofibromatosis type 1 (NF1) is one of the most common inherited dis orders and is characterized by abnormalities in multiple tissues deriv ed from the neural crest. Here, we report two novel deletion mutations of the NF1 gene from two out of 25 unrelated Japanese NF1 patients. T hese mutations were detected using polymerase chain reaction (PCR) / s ingle-strand conformation polymorphism (SSCP) analysis. Sequencing ana lysis revealed a 4 base pair (bp) deletion at 5679 (5679delACTG) in ex on 30 in one patient and a single bp deletion at 5949 (5949delA) in ex on 32 in the other patient. Both of these mutations resulted in frames hifts, followed by premature terminations of the mutant allele. Becaus e only a few large rearrangements of the NF1 gene have been reported i n NF1 patients, it is likely that subtle mutations such as these are c ommon. (C) 1994 Academic Press, Inc.