Acne inversa in a family：a clinical survey and genetic mutation analysis

VernacularTitle:反常性痤疮一家系调查及致病基因突变分析
Author: Xiaofeng ZHANG ; Huichun SU ; Yunfei QIN ; Chengrang LI ; Xuemin XIAO ; Haoxiang XU ; Baoxi WANG
Publication Type:Journal Article
Keywords: Mutation; Genes,PSENEN; Acne inversa; gamma-Secretase
From: Chinese Journal of Dermatology 2016;49(7):508-510
CountryChina
Language:Chinese
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 unrelatedhealthy 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.