A case report of Neurofibromatosis type 1 diagnosed with a noval mutation detection in NF1 gene

Neurofibromatosis type I (NF1) is a complex disorder caused by mutations of the neurofibromin protein-encoding gene on the chromosome 17. NF1 is an autosomal dominant disorder. The prevalence of NF1 is approximately 1:2500 to 1:3500. Both genders are equally affected. Herein, we report a 27-year-old female patient who had multiple hyperpigmented skin macules, multiple café-au-lait spots, axillary freckling, optic glioma, hundreds of soft cutaneous neurofibromas and lisch’s nodules on the iris of both eyes. According to the clinical features, we suspect from NF1 and-then sequence analysis of NF1 gene was performed. A heterozygous c.980 T> G (p.L327R) mutation was detected in the NF1 gene. This mutation has not been reported previously.