Novel Mutation of the NCSTN Gene Identified in a Chinese Acne Inversa Family

Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the genes have been identified as the cause of familial acne inversa. Herein, we recruited four patients and seven unaffected individuals from a Chinese family...

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Bibliographic Details
Published in:Annals of dermatology 2020, 32(3), , pp.237-242
Main Authors: Wu, Jing, Ge, Huiyao, Fan, Yiming, Zhen, Qi, Tang, Lili, Sun, Liangdan
Format: Article
Language:English
Subjects:
Case Report
피부과학
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Summary:Acne inversa is a chronic inflammatory follicular disease with autosomal dominant inheritance. In recent years, many functional mutations in the 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 gene. One novel frameshift mutation, c.450_459del (p.Ser 151GlnfsX48), was identified in exon 5 of the 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 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 gene and the pathogenesis of acne inversa and emphasize the value of genetic diagnosis in monogenic disorder.
ISSN:1013-9087
2005-3894
DOI:10.5021/AD.2020.32.3.237