Abstract:

Zhang Xiaofeng, Su Huichun, Qin Yunfei, Li Chengrang, Xiao Xuemin, Xu Haoxiang, Wang Baoxi Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing 210042，China （Zhang XF, Su HC, Li CR, Xiao XM, Xu HX, Wang BX）; Department of Dermatology, Second People′s Hospital of Nanning City, Nanning 530031, China （Qin YF） Corresponding author: Wang Baoxi, Email: wangbx@ncstdlc.org 【Abstract】 Objective To analyze γ?secretase gene mutations in a pedigree with acne inversa. Methods Clinical data were collected from a pedigree with acne inversa, which contained 30 members spanning 4 generations. Of these members, 12 were affected by acne inversa, and 9 of the affected members were alive. Peripheral blood DNA was obtained from the proband, his seven relatives （including 4 affected and 3 unaffected members）, and 100 unrelated healthy human controls. PCR was performed to amplify all the coding exons and their flanking sequences of the NCSTN, PSEN1, PSENEN, Aph1 genes followed by DNA sequencing. Results A heterozygous insertion mutation （c.229_230insCACC） of the PSENEN gene, which led to translational frameshifting and resulted in dysfunciton of the PSENEN protein, was detected in all the 5 patients, but not in unaffected members or healthy controls. Conclusion There is a novel heterozygous insertion mutation c.229_230insCACC in the PSENEN gene, which may be the molecular basis of acne inversa in this family.