Abstract: Objective: To identify the gene mutation in one family of neurofibromatosis type 1 (NF1). Methods: In this study, we recruited a child of NF1 with café-au-lait macules, axillary freckles and neurofibromas. In addition to removing the child's maxilla and orbital tumors for histological and immunohistochemical analysis, the child's and her relatives' peripheral blood DNA was also taken for whole exome sequencing (WES) and Sanger sequencing. Results: The features of skin biopsy were accordance with neurofibromatosis. The sequencing results identified a de novo heterozygous pathogenic mutation of NF1 c.204+2T>G in this child, resulting in amino acid splicing mutations. There was no pathogenic gene in the parents. Conclusion: This study identified the NF1 c.204+2T>G mutation in the NF1 patient. This study enriches the NF1 gene mutation database.

Key words: neurofibromatosis type 1, NF1 gene, mutation