Abstract: Objective: To identify the gene mutation in a acne inverse (AI) family. Methods: Four patients and 9 healthy members of 3 generations were included in this study. DNA was extracted in peripheral blood samples from patients and healthy members of the family, and 100 healthy controls. The Whole-exome sequencing was performed on peripheral blood samples of the precursors, and the sequencing results were analyzed by bioinformatics to obtain pathogenic candidate mutations. Then the candidate pathogenic genes were amplified by Sanger sequenced to verify the mutations of the candidate genes in other available blood samples. Results: There is a splice site mutation c.85+2T>C in the NCSTN gene in 4 patients which was not found in 9 healthy relatives and 100 healthy controls. Conclusion: NCSTN gene mutation (c.85+2T>C) is associated with AI in this family.

Key words: acne inverse, genome sequencing, NCSTN gene, gene mutation