Abstract: Ji Jin, Guo Qin, Zhang Ruohua, Li Ming Department of Dermatology, Jiangsu Province Hospital of TCM, Affiliated Hospital of Nanjing University of TCM, Nanjing 210023, China （Ji J, Guo Q, Zhang RH）; Department of Dermatology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Nanjing 200092, China （Li M） Corresponding author: Li Ming, Email: aypyslm@163.com 【Abstract】 Objective To detect NF1 gene mutations in a patient with neurofibromatosis type 1 （NF1）. Methods Polymerase chain reaction （PCR） and DNA sequencing were performed to detect mutations of the NF1 gene in a patient with NF1, his parents and 100 unrelated healthy controls. Results A novel frameshift mutation （c.3822delC） was identified in the patient, but not found in his parents or the unrelated healthy controls. Conclusion The novel frameshift mutation （c.3822delC） found in the patient is not a rare single nucleotide polymorphism （SNP）, and may be a causative mutation for NF1 by affecting the function of the NF1 gene.