Unusual Acne PSENEN Pathogenic Gene Mutation Analysis

Background and Objective: Acne inversa(AI) is known as hidradenitis suppurativa. In2010, Wang et al found that y-secretase gene mutation might cause acne inversa. Recently, scholars have paid close attention to AI. In our study, we focused on detection of PSENEN mutant gene in a family of acne inversa by analyzing clinical as well as laboratory data.Methods:The acne inversa families were recruited into this study with informed consent. Blood samples were taken from the proband, unaffected individuals in the acne inversa families and100unrelated healthy human controls. Genomic DNA was extracted from these blood samples. All coding region of PSEN1,PSENEN,NCSTN and APH1were amplified by polymerase chain reaction(PCR), followed by DNA sequencing and comparative analysis using Basic BLAST program.Results:There were sixteen members form four generations of the family.5cases were diagnosed as AI. The genetic map showed that the disease was of autosmal dominant inheritance. A frame-shift mutation, c.DNA279delC, was identified from the proband. The mutation was not found in the100human controls.Conclusion:A novel mutation, PSENEN c..DNA279delC, results in frame-shift mutation. The mutation may be one of the causes of the clinical phenotype in the family. By the study of pathogenesis related to mutant genes, the disease could be further understood and investigated. What’s more, It provides efficient approaches for the diagnosis and management of the disease.