Novel Mutation of the <i>NCSTN</i> Gene Identified in a Chinese Acne Inversa Family

Abstract

Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the <i>NCSTN</i> genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family and performed Sanger sequencing of the <i>NCSTN</i> gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the <i>NCSTN</i> gene. Three normal-looking children carrying the mutation were proven to be patients. We also presented a literature review from previous studies of acne inversa, suggesting that <i>NCSTN</i> is a hotspot gene for acne inversa. Most affected individuals experienced onset in adolescence. We confirmed the diagnosis in this family based on the mutation. This finding will help expound the relationship between the <i>NCSTN</i> gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.