Chinese Journal of Dermatology ›› 2025, Vol. 58 ›› Issue (2): 174-175.doi: 10.35541/cjd.20220178

• Case Reports • Previous Articles     Next Articles

A novel NF1 gene frameshift mutation in a case of neurofibromatosis type 1

Gao Xibo, Wei Ran, Qin Bei, Lian Jia, Li Qinfeng   

  1. Department of Dermatology, Tianjin Children′s Hospital, Tianjin 300134, China
  • Received:2022-03-17 Revised:2022-12-05 Online:2025-02-15 Published:2025-02-07
  • Contact: Li Qinfeng E-mail:lyz20061217@sina.com

Key words: I型神经纤维瘤病(neurofibromatosis type 1, NF1), 是一种常染色体显性遗传病, 由位于染色体17q11.2的NF1基因突变所致, 全球患病率约为1/3000~1/2000[1-2], 约50%病例表现为家族群集性, 其余为散发性, 成人外显率为100%。